esv3993014
- Organism: Homo sapiens
- Study:estd218 (Simpson et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:160,720
- Publication(s):Simpson et al. 2015
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: 2794 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1225 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1224 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2792 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3993014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,931,649 | 242,092,368 |
| esv3993014 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 1 | 136,438 |
| esv3993014 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 1 | 136,078 |
| esv3993014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,873,800 | 243,034,519 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26049769 | copy number loss | SLI_30_2 | SNP array | Probe signal intensity | 1 | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26049769 | Remapped | Pass | NT_187647.1:g.(?_1 )_(136078_?)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 1 | 136,078 |
| essv26049769 | Remapped | Pass | NT_187523.1:g.(?_1 )_(136438_?)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 1 | 136,438 |
| essv26049769 | Remapped | Perfect | NC_000002.12:g.(?_ 241931649)_(242092 368_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,931,649 | 242,092,368 |
| essv26049769 | Submitted genomic | NC_000002.11:g.(?_ 242873800)_(243034 519_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,873,800 | 243,034,519 |