esv3693358
- 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:60,549
- 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: 2573 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2573 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1264 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,323,761 |
| esv3693358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,033,478 |
| esv3693358 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,029,649 | 79,090,197 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508280 | copy number loss | C010025 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508279, essv16508278 |
| essv16508374 | copy number loss | C010082 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508376, essv16508373 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508280 | Remapped | Perfect | NC_000006.12:g.(?_ 78263213)_(7830145 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,301,459 |
| essv16508374 | Remapped | Perfect | NC_000006.12:g.(?_ 78275920)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,275,920 | 78,323,761 |
| essv16508280 | Remapped | Perfect | NC_000006.11:g.(?_ 78972930)_(7901117 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,011,176 |
| essv16508374 | Remapped | Perfect | NC_000006.11:g.(?_ 78985637)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,985,637 | 79,033,478 |
| essv16508280 | Submitted genomic | NC_000006.10:g.(?_ 79029649)_(7906789 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,649 | 79,067,895 | ||
| essv16508374 | Submitted genomic | NC_000006.10:g.(?_ 79042356)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,042,356 | 79,090,197 |