esv2422320
- 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:118,824
- 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: 467 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 467 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422320 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 44,205,412 | 44,324,235 |
| esv2422320 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 44,674,615 | 44,793,438 |
| esv2422320 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 43,744,365 | 43,863,188 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161338 | duplication | ND04498 | SNP array | SNP genotyping analysis | essv5161413, essv5161361, essv5161460 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161338 | Remapped | Perfect | NC_000014.9:g.(?_4 4205412)_(44324235 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,205,412 | 44,324,235 |
| essv5161338 | Remapped | Perfect | NC_000014.8:g.(?_4 4674615)_(44793438 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 44,674,615 | 44,793,438 |
| essv5161338 | Submitted genomic | NC_000014.7:g.(?_4 3744365)_(43863188 _?)dup | NCBI35 (hg17) | NC_000014.7 | Chr14 | 43,744,365 | 43,863,188 |