esv3693418
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:249,986
- 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: 1345 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1345 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,417,681 | 66,667,666 |
| esv3693418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 64,084,918 | 64,334,903 |
| esv3693418 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 62,235,898 | 62,485,883 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508339 | copy number loss | C010066 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508342, essv16508340 |
| essv16508346 | copy number loss | C010068 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508345 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508339 | Remapped | Perfect | NC_000018.10:g.(?_ 66417681)_(6666766 6_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,417,681 | 66,667,666 |
| essv16508346 | Remapped | Perfect | NC_000018.10:g.(?_ 66417681)_(6666766 6_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,417,681 | 66,667,666 |
| essv16508339 | Remapped | Perfect | NC_000018.9:g.(?_6 4084918)_(64334903 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 64,084,918 | 64,334,903 |
| essv16508346 | Remapped | Perfect | NC_000018.9:g.(?_6 4084918)_(64334903 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 64,084,918 | 64,334,903 |
| essv16508339 | Submitted genomic | NC_000018.8:g.(?_6 2235898)_(62485883 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 62,235,898 | 62,485,883 | ||
| essv16508346 | Submitted genomic | NC_000018.8:g.(?_6 2235898)_(62485883 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 62,235,898 | 62,485,883 |