esv2422362
- 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:938,997
- 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: 6551 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6600 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422362 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,844,068 | 22,783,064 |
| esv2422362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 22,198,357 | 23,125,553 |
| esv2422362 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 20,522,911 | 21,450,107 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161382 | deletion | ND03792 | SNP array | SNP genotyping analysis | essv5161465 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161382 | Remapped | Good | NC_000022.11:g.(?_ 21844068)_(2278306 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,844,068 | 22,783,064 |
| essv5161382 | Remapped | Perfect | NC_000022.10:g.(?_ 22198357)_(2312555 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,198,357 | 23,125,553 |
| essv5161382 | Submitted genomic | NC_000022.8:g.(?_2 0522911)_(21450107 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,522,911 | 21,450,107 |