esv3691936
- 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:125,706
- 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: 559 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 559 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3691936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,068,367 | 34,068,367 | 34,194,071 | 34,194,072 |
esv3691936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,069,989 | 34,069,989 | 34,195,693 | 34,195,694 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16506243 | deletion | LI-14-Sib | SNP array | SNP genotyping analysis | 49 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16506243 | Remapped | Perfect | NC_000004.12:g.(34 068367_34068367)_( 34194071_34194072) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,068,367 | 34,068,367 | 34,194,071 | 34,194,072 |
essv16506243 | Submitted genomic | NC_000004.11:g.(34 069989_34069989)_( 34195693_34195694) del125704 | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,069,989 | 34,069,989 | 34,195,693 | 34,195,694 |