esv3693185
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:809,502
- 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: 6381 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6298 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4073 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693185 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,688,852 | 21,498,353 |
| esv3693185 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,894,181 | 22,141,158 |
| esv3693185 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 19,154,195 | 19,545,168 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507092 | copy number gain | NA19201 | SNP array | Probe signal intensity | Healthy individuals | 3 | 38 |
| essv16508131 | copy number gain | NA19092 | SNP array | Probe signal intensity | Healthy individuals | 3 | 19 |
| essv16508649 | copy number gain | NA19202 | SNP array | Probe signal intensity | Healthy individuals | 3 | 28 |
| essv16507381 | copy number loss | NA19127 | SNP array | Probe signal intensity | Healthy individuals | 1 | 22 |
| essv16507598 | copy number gain | NA19094 | SNP array | Probe signal intensity | Healthy individuals | 3 | 26 |
| essv16507380 | copy number loss | NA19127 | SNP array | Probe signal intensity | Healthy individuals | 1 | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507092 | Remapped | Good | NT_187382.1:g.(?_1 71809)_(287169_?)d up | GRCh38.p12 | Second Pass | NT_187382.1 | Chr15|NT_1 87382.1 | 171,809 | 287,169 |
| essv16507092 | Remapped | Good | NT_187602.1:g.(?_2 02560)_(317920_?)d up | GRCh38.p12 | Second Pass | NT_187602.1 | Chr15|NT_1 87602.1 | 202,560 | 317,920 |
| essv16508131 | Remapped | Pass | NC_000015.10:g.(?_ 20688852)_(2149835 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,688,852 | 21,498,353 |
| essv16508649 | Remapped | Pass | NC_000015.10:g.(?_ 20924655)_(2149835 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,924,655 | 21,498,353 |
| essv16507381 | Remapped | Perfect | NC_000015.10:g.(?_ 20946340)_(2107518 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,946,340 | 21,075,180 |
| essv16507598 | Remapped | Perfect | NC_000015.10:g.(?_ 21297317)_(2133212 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 21,297,317 | 21,332,129 |
| essv16507380 | Remapped | Perfect | NC_000015.10:g.(?_ 21441607)_(2147580 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 21,441,607 | 21,475,807 |
| essv16508131 | Remapped | Pass | NC_000015.9:g.(?_2 0894181)_(22141158 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,894,181 | 22,141,158 |
| essv16507381 | Remapped | Perfect | NC_000015.9:g.(?_2 1151669)_(21280509 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 21,151,669 | 21,280,509 |
| essv16507598 | Remapped | Perfect | NC_000015.9:g.(?_2 1940227)_(21975039 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 21,940,227 | 21,975,039 |
| essv16507380 | Remapped | Good | NC_000015.9:g.(?_2 2084367)_(22118630 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,084,367 | 22,118,630 |
| essv16508131 | Submitted genomic | NC_000015.8:g.(?_1 9154195)_(19545168 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,154,195 | 19,545,168 | ||
| essv16507598 | Submitted genomic | NC_000015.8:g.(?_1 9193604)_(19228416 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,193,604 | 19,228,416 | ||
| essv16507380 | Submitted genomic | NC_000015.8:g.(?_1 9337896)_(19372096 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,337,896 | 19,372,096 | ||
| essv16507092 | Submitted genomic | NC_000015.8:g.(?_1 9340910)_(19456317 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,340,910 | 19,456,317 | ||
| essv16508649 | Submitted genomic | NC_000015.8:g.(?_1 9340910)_(19523964 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,340,910 | 19,523,964 | ||
| essv16507381 | Submitted genomic | NC_000015.8:g.(?_1 9416328)_(19545168 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 19,416,328 | 19,545,168 |