esv2422257
- 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:72,558
- 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: 593 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 593 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422257 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 104,944,474 | 105,017,031 |
| esv2422257 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 104,280,175 | 104,352,732 |
| esv2422257 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 104,308,074 | 104,380,631 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161554 | deletion | ND04484 | SNP array | SNP genotyping analysis | essv5161446 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161554 | Remapped | Perfect | NC_000005.10:g.(?_ 104944474)_(105017 031_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,944,474 | 105,017,031 |
| essv5161554 | Remapped | Perfect | NC_000005.9:g.(?_1 04280175)_(1043527 32_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 104,280,175 | 104,352,732 |
| essv5161554 | Submitted genomic | NC_000005.8:g.(?_1 04308074)_(1043806 31_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 104,308,074 | 104,380,631 |