esv32847
- 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:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,579
- 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: 231 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 33,361,457 | 33,364,035 |
| esv32847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 33,757,443 | 33,760,021 |
| esv32847 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 32,081,997 | 32,084,575 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv100217 | copy number loss | 22286 | Oligo aCGH | Probe signal intensity | 177 |
| essv101005 | copy number loss | 21693 | Oligo aCGH | Probe signal intensity | 187 |
| essv101328 | copy number loss | 21805 | Oligo aCGH | Probe signal intensity | 154 |
| essv101459 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
| essv101720 | copy number loss | 21909 | Oligo aCGH | Probe signal intensity | 171 |
| essv96520 | copy number loss | 22261 | Oligo aCGH | Probe signal intensity | 154 |
| essv97489 | copy number loss | 21616 | Oligo aCGH | Probe signal intensity | 158 |
| essv94592 | copy number loss | 21932 | Oligo aCGH | Probe signal intensity | 171 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100217 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv101005 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv101328 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv101459 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv101720 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv96520 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv97489 | Remapped | Perfect | NC_000022.11:g.(33 359165_33361457)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,359,165 | 33,361,457 | 33,364,035 | 33,364,384 |
| essv94592 | Remapped | Perfect | NC_000022.11:g.(33 361457_33361495)_( 33364035_33364384) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,361,457 | 33,361,495 | 33,364,035 | 33,364,384 |
| essv100217 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv101005 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv101328 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv101459 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv101720 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv96520 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv97489 | Remapped | Perfect | NC_000022.10:g.(33 755151_33757443)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,755,151 | 33,757,443 | 33,760,021 | 33,760,370 |
| essv94592 | Remapped | Perfect | NC_000022.10:g.(33 757443_33757481)_( 33760021_33760370) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 33,757,443 | 33,757,481 | 33,760,021 | 33,760,370 |
| essv100217 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv101005 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv101328 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv101459 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv101720 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv96520 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv97489 | Submitted genomic | NC_000022.8:g.(320 79705_32081997)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,079,705 | 32,081,997 | 32,084,575 | 32,084,924 | ||
| essv94592 | Submitted genomic | NC_000022.8:g.(320 81997_32082035)_(3 2084575_32084924)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 32,081,997 | 32,082,035 | 32,084,575 | 32,084,924 |