esv2422317
- 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:255,222
- 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: 1033 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1033 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 6 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 |
---|---|---|---|---|---|---|---|---|---|
esv2422317 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,317,386 | 167,572,607 |
esv2422317 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,238,537 | 168,493,758 |
esv2422317 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 168,613,267 | 168,868,488 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5161247 | deletion | ND04980 | SNP array | SNP genotyping analysis | essv5161547 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5161247 | Remapped | Perfect | NC_000004.12:g.(?_ 167317386)_(167572 607_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,317,386 | 167,572,607 |
essv5161247 | Remapped | Perfect | NC_000004.11:g.(?_ 168238537)_(168493 758_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,238,537 | 168,493,758 |
essv5161247 | Submitted genomic | NC_000004.9:g.(?_1 68613267)_(1688684 88_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 168,613,267 | 168,868,488 |