esv2422238
- 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:137,373
- 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: 876 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 73,101,436 | 73,238,808 |
| esv2422238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 70,768,671 | 70,906,043 |
| esv2422238 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 68,919,651 | 69,057,023 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161371 | deletion | ND00709 | SNP array | SNP genotyping analysis | essv5161309, essv5161394 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161371 | Remapped | Perfect | NC_000018.10:g.(?_ 73101436)_(7323880 8_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 73,101,436 | 73,238,808 |
| essv5161371 | Remapped | Perfect | NC_000018.9:g.(?_7 0768671)_(70906043 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 70,768,671 | 70,906,043 |
| essv5161371 | Submitted genomic | NC_000018.8:g.(?_6 8919651)_(69057023 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 68,919,651 | 69,057,023 |