esv3893808
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:459,420
- 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: 1453 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1453 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3893808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,596,587 | 165,596,587 | 166,056,006 | 166,056,006 |
| esv3893808 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 165,314,375 | 165,314,375 | 165,773,794 | 165,773,794 |
| esv3893808 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 166,797,069 | 166,797,069 | 167,256,488 | 167,256,488 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25784641 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25784641 | Remapped | Perfect | NC_000003.12:g.(?_ 165596587)_(166056 006_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,596,587 | 166,056,006 |
| essv25784641 | Remapped | Perfect | NC_000003.11:g.(?_ 165314375)_(165773 794_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,314,375 | 165,773,794 |
| essv25784641 | Submitted genomic | NC_000003.10:g.(?_ 166797069)_(167256 488_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,797,069 | 167,256,488 |