esv2422329
- 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:67,554
- 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: 323 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422329 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 66,139,360 | 66,206,913 |
| esv2422329 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 66,849,253 | 66,916,806 |
| esv2422329 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 66,905,974 | 66,973,527 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161278 | deletion | ND01684 | SNP array | SNP genotyping analysis | essv5161380, essv5161408 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161278 | Remapped | Perfect | NC_000006.12:g.(?_ 66139360)_(6620691 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 66,139,360 | 66,206,913 |
| essv5161278 | Remapped | Perfect | NC_000006.11:g.(?_ 66849253)_(6691680 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 66,849,253 | 66,916,806 |
| essv5161278 | Submitted genomic | NC_000006.9:g.(?_6 6905974)_(66973527 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 66,905,974 | 66,973,527 |