esv2422487
- 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:148,827
- 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: 455 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 455 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422487 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 17,011,291 | 17,160,117 |
| esv2422487 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 17,192,558 | 17,341,384 |
| esv2422487 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 17,114,186 | 17,263,012 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161541 | duplication | ND01493 | SNP array | SNP genotyping analysis | essv5161453, essv5161546, essv5161385 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161541 | Remapped | Perfect | NC_000002.12:g.(?_ 17011291)_(1716011 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,011,291 | 17,160,117 |
| essv5161541 | Remapped | Perfect | NC_000002.11:g.(?_ 17192558)_(1734138 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,192,558 | 17,341,384 |
| essv5161541 | Submitted genomic | NC_000002.9:g.(?_1 7114186)_(17263012 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 17,114,186 | 17,263,012 |