esv3691711
- 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:166,392
- 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: 976 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 1393 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691711 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | - | 1,138,209 | 1,304,600 | 1,304,600 |
| esv3691711 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 60,951 | 60,951 | 196,940 | - |
| esv3691711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,073,378 | 1,126,979 | 1,302,707 | 1,325,830 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16506018 | duplication | FR-35 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16506018 | Remapped | Pass | NW_015148966.1:g.( 60951_60951)_(1969 40_?)dup | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 60,951 | 60,951 | 196,940 | - |
| essv16506018 | Remapped | Pass | NC_000011.10:g.(?_ 1138209)_(1304600_ 1304600)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | - | 1,138,209 | 1,304,600 | 1,304,600 |
| essv16506018 | Submitted genomic | NC_000011.9:g.(107 3378_1126979)_(130 2707_1325830)dup17 5728 | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,073,378 | 1,126,979 | 1,302,707 | 1,325,830 |