esv2422354
- 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:167,710
- 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: 475 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422354 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 53,061,542 | 53,229,251 |
| esv2422354 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 51,138,903 | 51,306,612 |
| esv2422354 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 48,493,902 | 48,661,611 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161536 | duplication | ND05370 | SNP array | SNP genotyping analysis | essv5161526, essv5161469, essv5161283 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161536 | Remapped | Perfect | NC_000017.11:g.(?_ 53061542)_(5322925 1_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 53,061,542 | 53,229,251 |
| essv5161536 | Remapped | Perfect | NC_000017.10:g.(?_ 51138903)_(5130661 2_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 51,138,903 | 51,306,612 |
| essv5161536 | Submitted genomic | NC_000017.9:g.(?_4 8493902)_(48661611 _?)dup | NCBI35 (hg17) | NC_000017.9 | Chr17 | 48,493,902 | 48,661,611 |