esv275424
- 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:10,770
- 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: 456 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 272 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275424 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| esv275424 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| esv275424 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 4,073,552 | 4,073,665 | 4,084,225 | 4,084,321 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585214 | copy number loss | SNP array | Other |
| essv2585379 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585214 | Remapped | Perfect | NC_000009.12:g.(40 83552_4083665)_(40 94225_4094321)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| essv2585379 | Remapped | Perfect | NC_000009.12:g.(40 83552_4083665)_(40 94225_4094321)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| essv2585214 | Remapped | Perfect | NC_000009.11:g.(40 83552_4083665)_(40 94225_4094321)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| essv2585379 | Remapped | Perfect | NC_000009.11:g.(40 83552_4083665)_(40 94225_4094321)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 4,083,552 | 4,083,665 | 4,094,225 | 4,094,321 |
| essv2585214 | Submitted genomic | NC_000009.10:g.(40 73552_4073665)_(40 84225_4084321)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 4,073,552 | 4,073,665 | 4,084,225 | 4,084,321 | ||
| essv2585379 | Submitted genomic | NC_000009.10:g.(40 73552_4073665)_(40 84225_4084321)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 4,073,552 | 4,073,665 | 4,084,225 | 4,084,321 |