esv3690698
- 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:101,554
- 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: 314 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3690698 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 91,943,435 | 91,943,435 | 91,987,578 | 92,044,988 |
esv3690698 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 91,572,749 | 91,572,749 | 91,616,892 | 91,674,302 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16505005 | duplication | FR-02 | SNP array | SNP genotyping analysis | 40 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16505005 | Remapped | Perfect | NC_000007.14:g.(91 943435_91943435)_( 91987578_92044988) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 91,943,435 | 91,943,435 | 91,987,578 | 92,044,988 |
essv16505005 | Submitted genomic | NC_000007.13:g.(91 572749_91572749)_( 91616892_91674302) dup101553 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 91,572,749 | 91,572,749 | 91,616,892 | 91,674,302 |