esv3891586
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:306,004
- Publication(s):Suktitipat et al. 2014
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: 3474 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3478 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891586 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,676,507 | 11,676,507 | 11,963,439 | 11,982,510 |
| esv3891586 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 11,676,507 | 11,676,507 | 11,963,439 | 11,982,510 |
| esv3891586 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 11,666,507 | 11,666,507 | 11,953,439 | 11,972,510 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25779389 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25779360 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25779389 | Remapped | Perfect | NC_000009.12:g.(?_ 11676507)_(1196343 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,676,507 | 11,963,439 |
| essv25779360 | Remapped | Perfect | NC_000009.12:g.(?_ 11676507)_(1198251 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,676,507 | 11,982,510 |
| essv25779389 | Remapped | Perfect | NC_000009.11:g.(?_ 11676507)_(1196343 9_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,676,507 | 11,963,439 |
| essv25779360 | Remapped | Perfect | NC_000009.11:g.(?_ 11676507)_(1198251 0_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,676,507 | 11,982,510 |
| essv25779389 | Submitted genomic | NC_000009.10:g.(?_ 11666507)_(1195343 9_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,666,507 | 11,953,439 | ||
| essv25779360 | Submitted genomic | NC_000009.10:g.(?_ 11666507)_(1197251 0_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,666,507 | 11,972,510 |