esv2753923
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:238,330
- Publication(s):Pinto et al. 2007
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: 2460 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 2461 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753923 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 796,015 | 1,034,344 |
| esv2753923 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 756,750 | 995,079 |
| esv2753923 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 726,750 | 965,079 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6988953 | copy number gain | SPC_7 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6988953 | Remapped | Perfect | NC_000023.11:g.(?_ 796015)_(1034344_? )dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 796,015 | 1,034,344 |
| essv6988953 | Remapped | Perfect | NC_000023.10:g.(?_ 756750)_(995079_?) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 756,750 | 995,079 |
| essv6988953 | Submitted genomic | NC_000023.8:g.(?_7 26750)_(965079_?)d up | NCBI35 (hg17) | NC_000023.8 | ChrX | 726,750 | 965,079 |