esv3690443
- 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:124,067
- 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: 538 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 538 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3690443 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,939,341 | 133,939,341 | 134,063,406 | 134,063,407 |
| esv3690443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 134,860,496 | 134,860,496 | 134,984,561 | 134,984,562 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16504750 | deletion | TD-07 | SNP array | SNP genotyping analysis | 59 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16504750 | Remapped | Perfect | NC_000004.12:g.(13 3939341_133939341) _(134063406_134063 407)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,939,341 | 133,939,341 | 134,063,406 | 134,063,407 |
| essv16504750 | Submitted genomic | NC_000004.11:g.(13 4860496_134860496) _(134984561_134984 562)del124065 | GRCh37 (hg19) | NC_000004.11 | Chr4 | 134,860,496 | 134,860,496 | 134,984,561 | 134,984,562 |