esv3690250
- 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:127,751
- 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: 440 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3690250 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 39,261,025 | 39,261,025 | 39,331,663 | 39,388,775 |
esv3690250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 39,282,575 | 39,282,575 | 39,353,213 | 39,410,325 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16504557 | duplication | FR-09-SibA | SNP array | SNP genotyping analysis | 48 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16504557 | Remapped | Perfect | NC_000011.10:g.(39 261025_39261025)_( 39331663_39388775) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 39,261,025 | 39,261,025 | 39,331,663 | 39,388,775 |
essv16504557 | Submitted genomic | NC_000011.9:g.(392 82575_39282575)_(3 9353213_39410325)d up70638 | GRCh37 (hg19) | NC_000011.9 | Chr11 | 39,282,575 | 39,282,575 | 39,353,213 | 39,410,325 |