esv2422279
- 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:183,039
- 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: 1165 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1165 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,601,124 | 4,784,162 |
| esv2422279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 4,458,646 | 4,641,684 |
| esv2422279 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 4,446,054 | 4,629,092 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161301 | deletion | ND00700 | SNP array | SNP genotyping analysis | essv5161553, essv5161258 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161301 | Remapped | Perfect | NC_000008.11:g.(?_ 4601124)_(4784162_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,601,124 | 4,784,162 |
| essv5161301 | Remapped | Perfect | NC_000008.10:g.(?_ 4458646)_(4641684_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,458,646 | 4,641,684 |
| essv5161301 | Submitted genomic | NC_000008.9:g.(?_4 446054)_(4629092_? )del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 4,446,054 | 4,629,092 |