esv3692527
- 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:153,804
- 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: 1282 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1282 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692527 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,691,282 | 136,715,474 | 136,845,084 | 136,845,085 |
| esv3692527 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,703,525 | 137,727,717 | 137,857,327 | 137,857,328 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16506799 | deletion | FR-39 | SNP array | SNP genotyping analysis | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16506799 | Remapped | Perfect | NC_000008.11:g.(13 6691282_136715474) _(136845084_136845 085)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,691,282 | 136,715,474 | 136,845,084 | 136,845,085 |
| essv16506799 | Submitted genomic | NC_000008.10:g.(13 7703525_137727717) _(137857327_137857 328)del129610 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,703,525 | 137,727,717 | 137,857,327 | 137,857,328 |