esv32783
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:429
- Publication(s):de Smith et al. 2007
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: 98 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32783 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,762 |
| esv32783 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,755 |
| esv32783 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 33,785,881 | 33,786,309 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv94121 | copy number gain | 21802 | Oligo aCGH | Probe signal intensity | 176 |
| essv93109 | copy number gain | 21863 | Oligo aCGH | Probe signal intensity | 176 |
| essv98959 | copy number gain | 21938 | Oligo aCGH | Probe signal intensity | 201 |
| essv100165 | copy number loss | 22286 | Oligo aCGH | Probe signal intensity | 177 |
| essv93269 | copy number loss | 22170 | Oligo aCGH | Probe signal intensity | 238 |
| essv93556 | copy number loss | 22128 | Oligo aCGH | Probe signal intensity | 178 |
| essv94378 | copy number loss | 21808 | Oligo aCGH | Probe signal intensity | 172 |
| essv94738 | copy number loss | 21791 | Oligo aCGH | Probe signal intensity | 198 |
| essv94944 | copy number loss | 22231 | Oligo aCGH | Probe signal intensity | 206 |
| essv95681 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
| essv95872 | copy number loss | 21911 | Oligo aCGH | Probe signal intensity | 167 |
| essv97101 | copy number loss | 22075 | Oligo aCGH | Probe signal intensity | 208 |
| essv97300 | copy number loss | 21879 | Oligo aCGH | Probe signal intensity | 170 |
| essv97593 | copy number loss | 21616 | Oligo aCGH | Probe signal intensity | 158 |
| essv97852 | copy number loss | 21837 | Oligo aCGH | Probe signal intensity | 179 |
| essv98735 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv94121 | Remapped | Perfect | NC_000022.11:g.(35 064671_35065334)_( 35065558_35065762) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,064,671 | 35,065,334 | 35,065,558 | 35,065,762 |
| essv93109 | Remapped | Perfect | NC_000022.11:g.(35 064671_35065334)_( 35065762_35066120) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,064,671 | 35,065,334 | 35,065,762 | 35,066,120 |
| essv98959 | Remapped | Perfect | NC_000022.11:g.(35 064671_35065334)_( 35065762_35066120) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,064,671 | 35,065,334 | 35,065,762 | 35,066,120 |
| essv100165 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv93269 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv93556 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv94378 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv94738 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv94944 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv95681 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv95872 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv97101 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv97300 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv97593 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv97852 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv98735 | Remapped | Perfect | NC_000022.11:g.(35 065334_35065555)_( 35065558_35065762) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,065,334 | 35,065,555 | 35,065,558 | 35,065,762 |
| essv94121 | Remapped | Perfect | NC_000022.10:g.(35 460664_35461327)_( 35461551_35461755) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,460,664 | 35,461,327 | 35,461,551 | 35,461,755 |
| essv93109 | Remapped | Perfect | NC_000022.10:g.(35 460664_35461327)_( 35461755_35462113) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,460,664 | 35,461,327 | 35,461,755 | 35,462,113 |
| essv98959 | Remapped | Perfect | NC_000022.10:g.(35 460664_35461327)_( 35461755_35462113) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,460,664 | 35,461,327 | 35,461,755 | 35,462,113 |
| essv100165 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv93269 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv93556 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv94378 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv94738 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv94944 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv95681 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv95872 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv97101 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv97300 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv97593 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv97852 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv98735 | Remapped | Perfect | NC_000022.10:g.(35 461327_35461548)_( 35461551_35461755) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 35,461,327 | 35,461,548 | 35,461,551 | 35,461,755 |
| essv94121 | Submitted genomic | NC_000022.8:g.(337 85218_33785881)_(3 3786105_33786309)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,218 | 33,785,881 | 33,786,105 | 33,786,309 | ||
| essv93109 | Submitted genomic | NC_000022.8:g.(337 85218_33785881)_(3 3786309_33786667)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,218 | 33,785,881 | 33,786,309 | 33,786,667 | ||
| essv98959 | Submitted genomic | NC_000022.8:g.(337 85218_33785881)_(3 3786309_33786667)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,218 | 33,785,881 | 33,786,309 | 33,786,667 | ||
| essv100165 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv93269 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv93556 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv94378 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv94738 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv94944 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv95681 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv95872 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv97101 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv97300 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv97593 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv97852 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 | ||
| essv98735 | Submitted genomic | NC_000022.8:g.(337 85881_33786102)_(3 3786105_33786309)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 33,785,881 | 33,786,102 | 33,786,105 | 33,786,309 |