esv2422493
- Organism: Homo sapiens
- Study:estd196 (Simon-Sanchez et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:294,716
- Publication(s):Simon-Sanchez et al. 2006
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: 1539 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1540 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 11 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 |
---|---|---|---|---|---|---|---|---|---|
esv2422493 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,401,970 | 6,696,685 |
esv2422493 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 6,320,011 | 6,614,726 |
esv2422493 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 6,179,747 | 6,474,462 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5161531 | duplication | ND02256 | SNP array | SNP genotyping analysis | essv5161348 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5161531 | Remapped | Perfect | NC_000023.11:g.(?_ 6401970)_(6696685_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,401,970 | 6,696,685 |
essv5161531 | Remapped | Perfect | NC_000023.10:g.(?_ 6320011)_(6614726_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 6,320,011 | 6,614,726 |
essv5161531 | Submitted genomic | NC_000023.8:g.(?_6 179747)_(6474462_? )dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 6,179,747 | 6,474,462 |