esv2422301
- 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:254,932
- 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: 1312 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1312 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422301 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 23,783,436 | 24,038,367 |
| esv2422301 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 25,155,753 | 25,410,682 |
| esv2422301 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 24,077,624 | 24,332,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161533 | duplication | ND04104 | SNP array | SNP genotyping analysis | essv5161543 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161533 | Remapped | Good | NC_000021.9:g.(?_2 3783436)_(24038367 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,783,436 | 24,038,367 |
| essv5161533 | Remapped | Perfect | NC_000021.8:g.(?_2 5155753)_(25410682 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 25,155,753 | 25,410,682 |
| essv5161533 | Submitted genomic | NC_000021.7:g.(?_2 4077624)_(24332553 _?)dup | NCBI35 (hg17) | NC_000021.7 | Chr21 | 24,077,624 | 24,332,553 |