esv2422291
- 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:134,380
- 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: 303 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422291 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 23,465,852 | 23,600,231 |
| esv2422291 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 23,466,080 | 23,600,459 |
| esv2422291 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 23,574,059 | 23,708,438 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161272 | deletion | ND03123 | SNP array | SNP genotyping analysis | essv5161479, essv5161349 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161272 | Remapped | Perfect | NC_000006.12:g.(?_ 23465852)_(2360023 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 23,465,852 | 23,600,231 |
| essv5161272 | Remapped | Perfect | NC_000006.11:g.(?_ 23466080)_(2360045 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 23,466,080 | 23,600,459 |
| essv5161272 | Submitted genomic | NC_000006.9:g.(?_2 3574059)_(23708438 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 23,574,059 | 23,708,438 |