esv275025
- 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:20,801
- 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: 223 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 94 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275025 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 4,332,539 | 4,332,665 | 4,335,576 | 4,353,339 |
| esv275025 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 4,441,705 | 4,441,831 | 4,444,742 | 4,462,505 |
| esv275025 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 4,311,966 | 4,312,092 | 4,315,003 | 4,332,766 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585239 | copy number gain | SNP array | Other |
| essv2585483 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585239 | Remapped | Perfect | NC_000012.12:g.(43 32539_4332665)_(43 35576_4353339)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 4,332,539 | 4,332,665 | 4,335,576 | 4,353,339 |
| essv2585483 | Remapped | Perfect | NC_000012.12:g.(43 32539_4332665)_(43 35576_4353339)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 4,332,539 | 4,332,665 | 4,335,576 | 4,353,339 |
| essv2585239 | Remapped | Perfect | NC_000012.11:g.(44 41705_4441831)_(44 44742_4462505)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 4,441,705 | 4,441,831 | 4,444,742 | 4,462,505 |
| essv2585483 | Remapped | Perfect | NC_000012.11:g.(44 41705_4441831)_(44 44742_4462505)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 4,441,705 | 4,441,831 | 4,444,742 | 4,462,505 |
| essv2585239 | Submitted genomic | NC_000012.10:g.(43 11966_4312092)_(43 15003_4332766)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 4,311,966 | 4,312,092 | 4,315,003 | 4,332,766 | ||
| essv2585483 | Submitted genomic | NC_000012.10:g.(43 11966_4312092)_(43 15003_4332766)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 4,311,966 | 4,312,092 | 4,315,003 | 4,332,766 |