esv21985
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:sequence alteration
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:71
- Validation:Not tested
- Clinical Assertions: No
- Region Size:407,080
- Publication(s):Conrad et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9142 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1662 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 1632 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 1874 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 9143 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1530 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1911 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 2092 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 6730 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv21985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,444,130 | 32,812,100 |
| esv21985 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 4,111,193 |
| esv21985 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,205,813 |
| esv21985 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,231,330 |
| esv21985 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,411,907 | 32,779,877 |
| esv21985 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,864,568 | 4,116,778 |
| esv21985 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,832,679 | 4,205,111 |
| esv21985 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,827,971 | 4,236,950 |
| esv21985 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,519,885 | 32,887,855 |
Variant Call Information
| Variant Call ID | Type | Method |
|---|---|---|
| esv19501 | copy number variation | Merged region |
| esv19484 | copy number variation | Merged region |
| esv13755 | copy number variation | Merged region |
| esv18770 | copy number variation | Merged region |
| esv14486 | copy number variation | Merged region |
| esv17874 | copy number variation | Merged region |
| esv14415 | copy number variation | Merged region |
| esv21088 | copy number variation | Merged region |
| esv18530 | copy number variation | Merged region |
| esv15087 | copy number variation | Merged region |
| esv12371 | copy number variation | Merged region |
| esv10001 | copy number variation | Merged region |
| esv14863 | copy number variation | Merged region |
| esv14005 | copy number variation | Merged region |
| esv13326 | copy number variation | Merged region |
| esv9939 | copy number variation | Merged region |
| esv19763 | copy number variation | Merged region |
| esv15308 | copy number variation | Merged region |
| esv20802 | copy number variation | Merged region |
| esv16645 | copy number variation | Merged region |
| esv20758 | copy number variation | Merged region |
| esv17147 | copy number variation | Merged region |
| esv11986 | copy number variation | Merged region |
| esv13079 | copy number variation | Merged region |
| esv13085 | copy number variation | Merged region |
| esv18011 | copy number variation | Merged region |
| esv14912 | copy number variation | Merged region |
| esv13883 | copy number variation | Merged region |
| esv18428 | copy number variation | Merged region |
| esv20761 | copy number variation | Merged region |
| esv13107 | copy number variation | Merged region |
| esv18588 | copy number variation | Merged region |
| esv17788 | copy number variation | Merged region |
| esv20855 | copy number variation | Merged region |
| esv18700 | copy number variation | Merged region |
| esv10892 | copy number variation | Merged region |
| esv13011 | copy number variation | Merged region |
| esv9804 | copy number variation | Merged region |
| esv16828 | copy number variation | Merged region |
| esv16386 | copy number variation | Merged region |
| esv11811 | copy number variation | Merged region |
| esv15932 | copy number variation | Merged region |
| esv11450 | copy number variation | Merged region |
| esv21164 | copy number variation | Merged region |
| esv14871 | copy number variation | Merged region |
| esv10949 | copy number variation | Merged region |
| esv20369 | copy number variation | Merged region |
| esv12459 | copy number variation | Merged region |
| esv16480 | copy number variation | Merged region |
| esv12537 | copy number variation | Merged region |
| esv15803 | copy number variation | Merged region |
| esv18723 | copy number variation | Merged region |
| esv12761 | copy number variation | Merged region |
| esv16553 | copy number variation | Merged region |
| esv12730 | copy number variation | Merged region |
| esv13711 | copy number variation | Merged region |
| esv13379 | copy number variation | Merged region |
| esv17640 | copy number variation | Merged region |
| esv11852 | copy number variation | Merged region |
| esv12942 | copy number variation | Merged region |
| esv19456 | copy number variation | Merged region |
| esv19417 | copy number variation | Merged region |
| esv20089 | copy number variation | Merged region |
| esv18185 | copy number variation | Merged region |
| esv14481 | copy number variation | Merged region |
| esv10078 | copy number variation | Merged region |
| esv20010 | copy number variation | Merged region |
| esv17746 | copy number variation | Merged region |
| esv18084 | copy number variation | Merged region |
| esv12240 | copy number variation | Merged region |
| esv10281 | copy number variation | Merged region |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|
| esv19501 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187692.1 | Chr6|NT_18 7692.1 | 1 | 10,238 |
| esv19484 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 3,826,741 |
| esv13755 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,063,916 |
| esv18770 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,231,330 |
| esv14486 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,825,433 | 3,826,741 |
| esv17874 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,826,818 | 3,827,446 |
| esv14415 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,826,879 | 4,044,895 |
| esv13755 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,095,807 |
| esv18770 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,205,813 |
| esv21088 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,806 | 3,834,748 |
| esv19484 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,806 | 3,837,777 |
| esv14486 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,836,466 | 3,837,777 |
| esv17874 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,837,854 | 3,838,482 |
| esv18530 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,837,854 | 3,840,040 |
| esv14415 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,837,915 | 4,028,514 |
| esv15087 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,839,918 | 3,843,883 |
| esv13755 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 3,994,415 |
| esv18770 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 4,111,152 |
| esv21088 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,859,408 | 3,860,350 |
| esv19484 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,859,408 | 3,863,379 |
| esv14486 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,862,068 | 3,863,379 |
| esv17874 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,863,456 | 3,864,084 |
| esv18530 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,863,456 | 3,865,642 |
| esv14415 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,863,517 | 3,927,645 |
| esv15087 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,865,520 | 3,869,486 |
| esv12371 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,925,823 | 3,928,403 |
| esv10001 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,925,823 | 3,944,125 |
| esv14863 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,926,204 | 3,937,466 |
| esv14005 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,933,869 | 3,941,132 |
| esv13326 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,935,964 | 3,964,397 |
| esv9939 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,936,790 | 3,996,028 |
| esv19763 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,937,026 | 4,008,035 |
| esv15308 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,937,282 | 4,111,152 |
| esv20802 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,937,561 | 3,938,851 |
| esv16645 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,938,851 | 3,939,979 |
| esv20758 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,959,571 | 3,995,693 |
| esv17147 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,959,742 | 3,961,396 |
| esv11986 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,964,422 | 3,964,917 |
| esv13079 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,975,658 | 3,979,844 |
| esv13085 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,976,047 | 3,977,013 |
| esv18011 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,993,059 | 3,993,857 |
| esv14912 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,993,779 | 4,006,471 |
| esv13883 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,996,111 | 4,004,375 |
| esv18428 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,005,808 | 4,111,152 |
| esv12371 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,026,693 | 4,029,272 |
| esv10001 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,026,693 | 4,044,994 |
| esv14863 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,027,073 | 4,038,335 |
| esv14005 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,034,738 | 4,042,001 |
| esv13326 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,036,833 | 4,065,138 |
| esv9939 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,037,659 | 4,097,417 |
| esv19763 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,037,895 | 4,154,995 |
| esv15308 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,038,151 | 4,205,813 |
| esv20802 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,038,430 | 4,039,720 |
| esv16645 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,039,720 | 4,040,848 |
| esv12371 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,043,073 | 4,045,653 |
| esv10001 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,043,073 | 4,061,346 |
| esv14863 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,043,453 | 4,054,721 |
| esv14005 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,051,126 | 4,058,385 |
| esv19763 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,054,281 | 4,174,200 |
| esv15308 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,054,537 | 4,231,330 |
| esv20802 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,054,816 | 4,056,106 |
| esv16645 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,056,106 | 4,057,233 |
| esv20758 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,060,409 | 4,097,082 |
| esv17147 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,060,504 | 4,062,156 |
| esv20761 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,081,957 | 4,083,286 |
| esv14912 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,095,171 | 4,107,863 |
| esv13883 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,097,500 | 4,105,766 |
| esv13107 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,105,839 | 4,130,440 |
| esv18428 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,107,199 | 4,205,813 |
| esv18588 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,108,026 | 4,111,152 |
| esv17788 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,109,568 | 4,111,193 |
| esv20855 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,110,228 | 4,111,152 |
| esv18700 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,118,258 | 4,154,995 |
| esv10892 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,118,656 | 4,119,547 |
| esv13011 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,121,445 | 4,130,325 |
| esv13107 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,128,607 | 4,149,601 |
| esv18428 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,128,607 | 4,231,330 |
| esv18700 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,137,418 | 4,174,200 |
| esv10892 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,137,816 | 4,138,707 |
| esv13011 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,140,589 | 4,149,486 |
| esv20761 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,183,029 | 4,184,355 |
| esv20761 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,202,226 | 4,203,552 |
| esv18588 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,228,287 | 4,231,330 |
| esv17788 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,229,828 | 4,231,330 |
| esv20855 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,230,488 | 4,231,330 |
| esv18011 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,818,659 | 3,819,457 |
| esv13755 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,818,659 | 3,939,780 |
| esv12371 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,868,675 | 3,871,255 |
| esv10001 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,868,675 | 3,886,948 |
| esv14863 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,869,055 | 3,880,323 |
| esv14005 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,876,728 | 3,883,987 |
| esv13326 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,878,824 | 3,908,736 |
| esv9939 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,879,648 | 3,941,393 |
| esv19763 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,879,883 | 3,953,400 |
| esv20802 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,880,418 | 3,881,708 |
| esv16645 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,881,708 | 3,882,835 |
| esv9804 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,899,092 | 3,900,025 |
| esv20758 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,903,931 | 3,941,058 |
| esv17147 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,904,101 | 3,905,753 |
| esv13079 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,921,011 | 3,925,201 |