esv3692428
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:185,564
- Publication(s):Pettigrew et al. 2015
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: 842 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 842 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,206,121 | 133,206,121 | 133,391,683 | 133,391,684 |
| esv3692428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 134,127,276 | 134,127,276 | 134,312,838 | 134,312,839 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16506700 | duplication | FR-36 | SNP array | SNP genotyping analysis | 51 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16506700 | Remapped | Perfect | NC_000004.12:g.(13 3206121_133206121) _(133391683_133391 684)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,206,121 | 133,206,121 | 133,391,683 | 133,391,684 |
| essv16506700 | Submitted genomic | NC_000004.11:g.(13 4127276_134127276) _(134312838_134312 839)dup185562 | GRCh37 (hg19) | NC_000004.11 | Chr4 | 134,127,276 | 134,127,276 | 134,312,838 | 134,312,839 |