esv2422215
- 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:93,545
- 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: 642 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422215 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 8,732,247 | 8,825,791 |
| esv2422215 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 8,771,877 | 8,865,421 |
| esv2422215 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 8,545,117 | 8,638,661 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161392 | deletion | ND01588 | SNP array | SNP genotyping analysis | essv5161507, essv5161355 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161392 | Remapped | Perfect | NC_000007.14:g.(?_ 8732247)_(8825791_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,732,247 | 8,825,791 |
| essv5161392 | Remapped | Perfect | NC_000007.13:g.(?_ 8771877)_(8865421_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 8,771,877 | 8,865,421 |
| essv5161392 | Submitted genomic | NC_000007.11:g.(?_ 8545117)_(8638661_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 8,545,117 | 8,638,661 |