esv275142
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,311
- Publication(s):Banerjee et al. 2011
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: 414 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275142 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000006.12 | Chr6 | 9,141,064 | 9,205,107 | 9,254,374 | - |
| esv275142 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 9,141,297 | 9,205,340 | 9,254,607 | - |
| esv275142 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 9,150,469 | 9,309,474 | 9,313,326 | 9,363,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585282 | copy number loss | SNP array | Other |
| essv2585513 | copy number gain | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585282 | Remapped | Pass | NC_000006.12:g.(91 41064_9205107)_(92 54374_?)del | GRCh38.p12 | Second Pass | NC_000006.12 | Chr6 | 9,141,064 | 9,205,107 | 9,254,374 | - |
| essv2585513 | Remapped | Pass | NC_000006.12:g.(91 41064_9205107)_(92 54374_?)dup | GRCh38.p12 | Second Pass | NC_000006.12 | Chr6 | 9,141,064 | 9,205,107 | 9,254,374 | - |
| essv2585282 | Remapped | Pass | NC_000006.11:g.(91 41297_9205340)_(92 54607_?)del | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 9,141,297 | 9,205,340 | 9,254,607 | - |
| essv2585513 | Remapped | Pass | NC_000006.11:g.(91 41297_9205340)_(92 54607_?)dup | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 9,141,297 | 9,205,340 | 9,254,607 | - |
| essv2585282 | Submitted genomic | NC_000006.10:g.(91 50469_9309474)_(93 13326_9363165)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 9,150,469 | 9,309,474 | 9,313,326 | 9,363,165 | ||
| essv2585513 | Submitted genomic | NC_000006.10:g.(91 50469_9309474)_(93 13326_9363165)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 9,150,469 | 9,309,474 | 9,313,326 | 9,363,165 |