esv3693320
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,366
- Publication(s):Palta 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: 725 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 727 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3693320 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 108,109,703 | 108,214,068 |
| esv3693320 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 121,879 | 226,237 |
| esv3693320 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 108,652,325 | 108,756,690 |
| esv3693320 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 108,453,848 | 108,558,213 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|---|
| essv16508461 | copy number gain | C010140 | SNP array | Probe signal intensity | Healthy individuals | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508461 | Remapped | Good | NW_017852928.1:g.( ?_121879)_(226237_ ?)dup | GRCh38.p12 | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 121,879 | 226,237 |
| essv16508461 | Remapped | Perfect | NC_000001.11:g.(?_ 108109703)_(108214 068_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 108,109,703 | 108,214,068 |
| essv16508461 | Remapped | Perfect | NC_000001.10:g.(?_ 108652325)_(108756 690_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 108,652,325 | 108,756,690 |
| essv16508461 | Submitted genomic | NC_000001.9:g.(?_1 08453848)_(1085582 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 108,453,848 | 108,558,213 |