esv3580959
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:376,009
- Publication(s):Uddin 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: 3793 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3917 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3580959 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,123,863 | 22,499,871 |
| esv3580959 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,591,821 | 22,968,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9804758 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9804758 | Remapped | Good | NC_000014.9:g.(?_2 2123863)_(22499871 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,123,863 | 22,499,871 |
| essv9804758 | Submitted genomic | NC_000014.8:g.(?_2 2591821)_(22968854 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,591,821 | 22,968,854 |