esv3691111
- 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:156,807
- 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: 494 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 494 SVs from 71 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3691111 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 22,372,942 | 22,372,942 | 22,529,747 | 22,529,748 |
esv3691111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 22,525,876 | 22,525,876 | 22,682,681 | 22,682,682 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16505418 | duplication | FR-12-Sib | SNP array | SNP genotyping analysis | 44 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16505418 | Remapped | Perfect | NC_000012.12:g.(22 372942_22372942)_( 22529747_22529748) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 22,372,942 | 22,372,942 | 22,529,747 | 22,529,748 |
essv16505418 | Submitted genomic | NC_000012.11:g.(22 525876_22525876)_( 22682681_22682682) dup156805 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 22,525,876 | 22,525,876 | 22,682,681 | 22,682,682 |