esv2422478
- 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:192,366
- 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: 3107 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3111 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,819,951 | 12,012,316 |
| esv2422478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 11,819,951 | 12,012,316 |
| esv2422478 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 11,809,951 | 12,002,316 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161258 | deletion | ND00700 | SNP array | SNP genotyping analysis | essv5161553, essv5161301 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161258 | Remapped | Perfect | NC_000009.12:g.(?_ 11819951)_(1201231 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,819,951 | 12,012,316 |
| essv5161258 | Remapped | Perfect | NC_000009.11:g.(?_ 11819951)_(1201231 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,819,951 | 12,012,316 |
| essv5161258 | Submitted genomic | NC_000009.9:g.(?_1 1809951)_(12002316 _?)del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,809,951 | 12,002,316 |