esv3693372
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,629
- Publication(s):Palta et al. 2015
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: 539 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3693372 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,754,591 | 14,831,219 |
| esv3693372 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 14,612,100 | 14,688,728 |
| esv3693372 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 14,656,471 | 14,733,099 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508287 | copy number loss | C010037 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508288, essv16508289 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508287 | Remapped | Perfect | NC_000008.11:g.(?_ 14754591)_(1483121 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,754,591 | 14,831,219 |
| essv16508287 | Remapped | Perfect | NC_000008.10:g.(?_ 14612100)_(1468872 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,612,100 | 14,688,728 |
| essv16508287 | Submitted genomic | NC_000008.9:g.(?_1 4656471)_(14733099 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 14,656,471 | 14,733,099 |