esv3689323
- 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:98,887
- 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: 309 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 309 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3689323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 91,946,103 | 91,946,103 | 92,044,988 | 92,044,989 |
esv3689323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 91,575,417 | 91,575,417 | 91,674,302 | 91,674,303 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16503630 | duplication | LI-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16503630 | Remapped | Perfect | NC_000007.14:g.(91 946103_91946103)_( 92044988_92044989) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 91,946,103 | 91,946,103 | 92,044,988 | 92,044,989 |
essv16503630 | Submitted genomic | NC_000007.13:g.(91 575417_91575417)_( 91674302_91674303) dup98885 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 91,575,417 | 91,575,417 | 91,674,302 | 91,674,303 |