esv3693356
- 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:63,027
- 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: 304 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 16 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 |
---|---|---|---|---|---|---|---|---|---|
esv3693356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 77,824,985 | 77,888,011 |
esv3693356 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,534,702 | 78,597,728 |
esv3693356 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 78,591,421 | 78,654,447 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
essv16508233 | copy number loss | C010009 | SNP array | Probe signal intensity | Healthy individuals | 1 | |
essv16508236 | copy number loss | C010010 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508234, essv16508235 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv16508233 | Remapped | Perfect | NC_000006.12:g.(?_ 77824985)_(7788801 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,824,985 | 77,888,011 |
essv16508236 | Remapped | Perfect | NC_000006.12:g.(?_ 77824985)_(7788801 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,824,985 | 77,888,011 |
essv16508233 | Remapped | Perfect | NC_000006.11:g.(?_ 78534702)_(7859772 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,534,702 | 78,597,728 |
essv16508236 | Remapped | Perfect | NC_000006.11:g.(?_ 78534702)_(7859772 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,534,702 | 78,597,728 |
essv16508233 | Submitted genomic | NC_000006.10:g.(?_ 78591421)_(7865444 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,591,421 | 78,654,447 | ||
essv16508236 | Submitted genomic | NC_000006.10:g.(?_ 78591421)_(7865444 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,591,421 | 78,654,447 |