esv2422462
- 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:208,474
- 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: 1237 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1237 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 220 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422462 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,527,277 | 136,735,750 |
| esv2422462 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,539,520 | 137,747,993 |
| esv2422462 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 137,608,702 | 137,817,175 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| essv5161497 | deletion | ND01688 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161497 | Remapped | Perfect | NC_000008.11:g.(?_ 136527277)_(136735 750_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,527,277 | 136,735,750 |
| essv5161497 | Remapped | Perfect | NC_000008.10:g.(?_ 137539520)_(137747 993_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,539,520 | 137,747,993 |
| essv5161497 | Submitted genomic | NC_000008.9:g.(?_1 37608702)_(1378171 75_?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,608,702 | 137,817,175 |