esv3692987
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,872
- 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: 197 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3692987 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| esv3692987 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| esv3692987 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507244 | copy number loss | NA18507 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16507374 | copy number loss | NA19127 | SNP array | Probe signal intensity | Healthy individuals | 1 | 22 |
| essv16507957 | copy number loss | NA19119 | SNP array | Probe signal intensity | Healthy individuals | 1 | 25 |
| essv16508204 | copy number loss | NA19103 | SNP array | Probe signal intensity | Healthy individuals | 1 | 20 |
| essv16508750 | copy number loss | NA19129 | SNP array | Probe signal intensity | Healthy individuals | 1 | 18 |
| essv16508806 | copy number loss | NA18854 | SNP array | Probe signal intensity | Healthy individuals | 1 | 36 |
| essv16509247 | copy number loss | NA18852 | SNP array | Probe signal intensity | Healthy individuals | 1 | 26 |
| essv16507845 | copy number loss | NA19101 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16508161 | copy number loss | NA19207 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507244 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16507374 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16507957 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16508204 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16508750 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16508806 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16509247 | Remapped | Perfect | NC_000008.11:g.(?_ 57445392)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,445,392 | 57,455,263 |
| essv16507845 | Remapped | Perfect | NC_000008.11:g.(?_ 57446681)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,446,681 | 57,455,263 |
| essv16508161 | Remapped | Perfect | NC_000008.11:g.(?_ 57446681)_(5745526 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,446,681 | 57,455,263 |
| essv16507244 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16507374 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16507957 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16508204 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16508750 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16508806 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16509247 | Remapped | Perfect | NC_000008.10:g.(?_ 58357951)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,357,951 | 58,367,822 |
| essv16507845 | Remapped | Perfect | NC_000008.10:g.(?_ 58359240)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,359,240 | 58,367,822 |
| essv16508161 | Remapped | Perfect | NC_000008.10:g.(?_ 58359240)_(5836782 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 58,359,240 | 58,367,822 |
| essv16507244 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16507374 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16507957 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16508204 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16508750 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16508806 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16509247 | Submitted genomic | NC_000008.9:g.(?_5 8520505)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,520,505 | 58,530,376 | ||
| essv16507845 | Submitted genomic | NC_000008.9:g.(?_5 8521794)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,521,794 | 58,530,376 | ||
| essv16508161 | Submitted genomic | NC_000008.9:g.(?_5 8521794)_(58530376 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 58,521,794 | 58,530,376 |