esv2422460
- 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:172,954
- 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: 529 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 104,561,148 | 104,734,101 |
| esv2422460 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 105,573,376 | 105,746,329 |
| esv2422460 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 105,642,552 | 105,815,505 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| essv5161383 | duplication | ND04017 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv5161383 | Remapped | Perfect | NC_000008.11:g.(?_ 104561148)_(104734 101_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 104,561,148 | 104,734,101 |
| essv5161383 | Remapped | Perfect | NC_000008.10:g.(?_ 105573376)_(105746 329_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 105,573,376 | 105,746,329 |
| essv5161383 | Submitted genomic | NC_000008.9:g.(?_1 05642552)_(1058155 05_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 105,642,552 | 105,815,505 |