esv2422275
- 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:Yes
- Clinical Assertions: No
- Region Size:153,039
- 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: 792 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 792 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,628,725 | 161,781,763 |
| esv2422275 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,049,757 | 162,202,795 |
| esv2422275 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 162,020,168 | 162,173,206 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161358 | duplication | ND05536 | SNP array | SNP genotyping analysis | essv5161244, essv5161463, essv5161432 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161358 | Remapped | Perfect | NC_000006.12:g.(?_ 161628725)_(161781 763_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,628,725 | 161,781,763 |
| essv5161358 | Remapped | Perfect | NC_000006.11:g.(?_ 162049757)_(162202 795_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,049,757 | 162,202,795 |
| essv5161358 | Submitted genomic | NC_000006.9:g.(?_1 62020168)_(1621732 06_?)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 162,020,168 | 162,173,206 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5161358 | 2 | ND05536 | qPCR | Other | Pass |