esv2422434
- 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:284,238
- 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: 1347 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1347 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422434 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 89,770,638 | 90,054,875 |
| esv2422434 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 89,399,952 | 89,684,189 |
| esv2422434 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 89,044,603 | 89,328,840 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161465 | deletion | ND03792 | SNP array | SNP genotyping analysis | essv5161382 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161465 | Remapped | Perfect | NC_000007.14:g.(?_ 89770638)_(9005487 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,770,638 | 90,054,875 |
| essv5161465 | Remapped | Perfect | NC_000007.13:g.(?_ 89399952)_(8968418 9_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 89,399,952 | 89,684,189 |
| essv5161465 | Submitted genomic | NC_000007.11:g.(?_ 89044603)_(8932884 0_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 89,044,603 | 89,328,840 |