esv2422199
- 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:76,076
- 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: 310 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 44,563,588 | 44,639,663 |
| esv2422199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 45,032,791 | 45,108,866 |
| esv2422199 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 44,102,541 | 44,178,616 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161489 | deletion | ND01583 | SNP array | SNP genotyping analysis | essv5161369, essv5161414, essv5161332 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161489 | Remapped | Perfect | NC_000014.9:g.(?_4 4563588)_(44639663 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,563,588 | 44,639,663 |
| essv5161489 | Remapped | Perfect | NC_000014.8:g.(?_4 5032791)_(45108866 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,032,791 | 45,108,866 |
| essv5161489 | Submitted genomic | NC_000014.7:g.(?_4 4102541)_(44178616 _?)del | NCBI35 (hg17) | NC_000014.7 | Chr14 | 44,102,541 | 44,178,616 |