esv3576730
- 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:221,826
- 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: 1449 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1450 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3576730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,531,796 | 6,753,621 |
| esv3576730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,449,837 | 6,671,662 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9823003 | copy number gain | SNP array | Probe signal intensity | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9823003 | Remapped | Perfect | NC_000023.11:g.(?_ 6531796)_(6753621_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,531,796 | 6,753,621 |
| essv9823003 | Submitted genomic | NC_000023.10:g.(?_ 6449837)_(6671662_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,449,837 | 6,671,662 |