esv2758553
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:221,353
- Publication(s):Redon et al. 2006
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: 1310 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1295 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2758553 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 46,993,418 | 47,214,770 |
| esv2758553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 47,389,314 | 47,610,520 |
| esv2758553 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 45,709,833 | 45,931,039 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv10766 | copy number loss | NA18523 | BAC aCGH | Probe signal intensity | 114 |
| essv11097 | copy number gain | NA19211 | BAC aCGH | Probe signal intensity | 143 |
| essv19585 | copy number gain | NA12864 | BAC aCGH | Probe signal intensity | 125 |
| essv21419 | copy number gain | NA12717 | BAC aCGH | Probe signal intensity | 87 |
| essv24683 | copy number loss | NA11829 | BAC aCGH | Probe signal intensity | 120 |
| essv5601 | copy number gain | NA18529 | BAC aCGH | Probe signal intensity | 111 |
| essv11661 | copy number loss | NA19154 | BAC aCGH | Probe signal intensity | 139 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10766 | Remapped | Good | NC_000022.11:g.(?_ 46993418)_(4721477 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 46,993,418 | 47,214,770 |
| essv11097 | Remapped | Good | NC_000022.11:g.(?_ 47041539)_(4721477 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,041,539 | 47,214,770 |
| essv19585 | Remapped | Good | NC_000022.11:g.(?_ 47041539)_(4721477 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,041,539 | 47,214,770 |
| essv21419 | Remapped | Good | NC_000022.11:g.(?_ 47041539)_(4721477 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,041,539 | 47,214,770 |
| essv24683 | Remapped | Good | NC_000022.11:g.(?_ 47041539)_(4721477 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,041,539 | 47,214,770 |
| essv5601 | Remapped | Good | NC_000022.11:g.(?_ 47041539)_(4721477 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,041,539 | 47,214,770 |
| essv11661 | Remapped | Good | NC_000022.11:g.(?_ 47175430)_(4721477 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,175,430 | 47,214,770 |
| essv10766 | Remapped | Perfect | NC_000022.10:g.(?_ 47389314)_(4761052 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,389,314 | 47,610,520 |
| essv11097 | Remapped | Perfect | NC_000022.10:g.(?_ 47437435)_(4761052 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,437,435 | 47,610,520 |
| essv19585 | Remapped | Perfect | NC_000022.10:g.(?_ 47437435)_(4761052 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,437,435 | 47,610,520 |
| essv21419 | Remapped | Perfect | NC_000022.10:g.(?_ 47437435)_(4761052 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,437,435 | 47,610,520 |
| essv24683 | Remapped | Perfect | NC_000022.10:g.(?_ 47437435)_(4761052 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,437,435 | 47,610,520 |
| essv5601 | Remapped | Perfect | NC_000022.10:g.(?_ 47437435)_(4761052 0_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,437,435 | 47,610,520 |
| essv11661 | Remapped | Perfect | NC_000022.10:g.(?_ 47571073)_(4761052 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 47,571,073 | 47,610,520 |
| essv10766 | Submitted genomic | NC_000022.8:g.(?_4 5709833)_(45931039 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,709,833 | 45,931,039 | ||
| essv11097 | Submitted genomic | NC_000022.8:g.(?_4 5757954)_(45931039 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,757,954 | 45,931,039 | ||
| essv19585 | Submitted genomic | NC_000022.8:g.(?_4 5757954)_(45931039 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,757,954 | 45,931,039 | ||
| essv21419 | Submitted genomic | NC_000022.8:g.(?_4 5757954)_(45931039 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,757,954 | 45,931,039 | ||
| essv24683 | Submitted genomic | NC_000022.8:g.(?_4 5757954)_(45931039 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,757,954 | 45,931,039 | ||
| essv5601 | Submitted genomic | NC_000022.8:g.(?_4 5757954)_(45931039 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,757,954 | 45,931,039 | ||
| essv11661 | Submitted genomic | NC_000022.8:g.(?_4 5891592)_(45931039 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 45,891,592 | 45,931,039 |