esv3691590
- 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:108,893
- 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: 974 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 974 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691590 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 1,725,757 | 1,725,757 | 1,834,648 | 1,834,649 |
| esv3691590 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | - | 1 | 90,450 | 90,450 |
| esv3691590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 1,725,758 | 1,725,758 | 1,834,649 | 1,834,650 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505897 | deletion | FR-30 | SNP array | SNP genotyping analysis | 38 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505897 | Remapped | Pass | NW_019805503.1:g.( ?_1)_(90450_90450) del | GRCh38.p12 | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | - | 1 | 90,450 | 90,450 |
| essv16505897 | Remapped | Perfect | NC_000018.10:g.(17 25757_1725757)_(18 34648_1834649)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 1,725,757 | 1,725,757 | 1,834,648 | 1,834,649 |
| essv16505897 | Submitted genomic | NC_000018.9:g.(172 5758_1725758)_(183 4649_1834650)del10 8891 | GRCh37 (hg19) | NC_000018.9 | Chr18 | 1,725,758 | 1,725,758 | 1,834,649 | 1,834,650 |