esv2753173
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:247,757
- Publication(s):Pinto et al. 2007
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: 861 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 861 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 134,009,441 | 134,257,197 |
| esv2753173 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 134,930,596 | 135,178,352 |
| esv2753173 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 135,288,201 | 135,535,957 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6983267 | copy number loss | BEC_560 | SNP array | SNP genotyping analysis | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6983267 | Remapped | Perfect | NC_000004.12:g.(?_ 134009441)_(134257 197_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 134,009,441 | 134,257,197 |
| essv6983267 | Remapped | Perfect | NC_000004.11:g.(?_ 134930596)_(135178 352_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,930,596 | 135,178,352 |
| essv6983267 | Submitted genomic | NC_000004.9:g.(?_1 35288201)_(1355359 57_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 135,288,201 | 135,535,957 |