esv3691092
- 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:121,996
- 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: 1324 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1324 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 1,227,964 | 1,227,964 | 1,349,958 | 1,349,959 |
| esv3691092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 1,267,600 | 1,267,600 | 1,389,594 | 1,389,595 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505399 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505399 | Remapped | Perfect | NC_000007.14:g.(12 27964_1227964)_(13 49958_1349959)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 1,227,964 | 1,227,964 | 1,349,958 | 1,349,959 |
| essv16505399 | Submitted genomic | NC_000007.13:g.(12 67600_1267600)_(13 89594_1389595)dup1 21994 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 1,267,600 | 1,267,600 | 1,389,594 | 1,389,595 |