esv3321518
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:277
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 225 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3321518 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,702,853 (-1, +1) | 248,703,129 (-1, +1) |
| esv3321518 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 248,866,154 (-1, +1) | 248,866,430 (-1, +1) |
| esv3321518 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315903.1 | Chr1|NW_00 3315903.1 | 376 (-1, +1) | 652 (-1, +1) |
| esv3321518 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 246,932,777 (-1, +1) | 246,933,053 (-1, +1) |
Variant Call Information
| Variant Call ID | Type | Method |
|---|---|---|
| esv3321516 | copy number variation | Merged region |
| esv3321515 | copy number variation | Merged region |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| esv3321516 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,702,858 (-136, +74) | 248,703,141 (-113, +107) |
| esv3321515 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,702,867 (-75, +55) | 248,703,144 (-74, +42) |
| esv3321516 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003315903.1 | Chr1|NW_00 3315903.1 | 381 (-136, +74) | 664 (-113, +107) |
| esv3321515 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003315903.1 | Chr1|NW_00 3315903.1 | 390 (-75, +55) | 667 (-74, +42) |
| esv3321516 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 248,866,159 (-136, +74) | 248,866,442 (-113, +107) |
| esv3321515 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 248,866,168 (-75, +55) | 248,866,445 (-74, +42) |
| esv3321516 | Submitted genomic | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,932,782 (-136, +74) | 246,933,065 (-113, +107) | ||
| esv3321515 | Submitted genomic | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,932,791 (-75, +55) | 246,933,068 (-74, +42) |