esv3691603
- 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:86,078
- 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: 382 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 203,214,372 | 203,214,372 | 203,300,448 | 203,300,449 |
| esv3691603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 204,079,095 | 204,079,095 | 204,165,171 | 204,165,172 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505910 | duplication | FR-31 | SNP array | SNP genotyping analysis | 42 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505910 | Remapped | Perfect | NC_000002.12:g.(20 3214372_203214372) _(203300448_203300 449)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 203,214,372 | 203,214,372 | 203,300,448 | 203,300,449 |
| essv16505910 | Submitted genomic | NC_000002.11:g.(20 4079095_204079095) _(204165171_204165 172)dup86076 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 204,079,095 | 204,079,095 | 204,165,171 | 204,165,172 |