esv2757341
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,808
- 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: 353 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,519,460 |
| esv2757341 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,134,376 |
| esv2757341 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 69,330,123 | 69,363,930 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv11304 | copy number gain | NA18863 | SNP array | SNP genotyping analysis | 114 |
| essv14028 | copy number gain | NA18862 | SNP array | SNP genotyping analysis | 114 |
| essv21606 | copy number loss | NA12155 | SNP array | SNP genotyping analysis | 79 |
| essv23164 | copy number loss | NA10831 | SNP array | SNP genotyping analysis | 132 |
| essv3839 | copy number gain | NA18953 | SNP array | SNP genotyping analysis | 103 |
| essv516 | copy number loss | NA18952 | SNP array | SNP genotyping analysis | 106 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv11304 | Remapped | Perfect | NC_000009.12:g.(69 485653_69491713)_( 69501890_69519460) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,491,713 | 69,501,890 | 69,519,460 |
| essv14028 | Remapped | Perfect | NC_000009.12:g.(69 485653_69485653)_( 69501890_69519460) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,485,653 | 69,501,890 | 69,519,460 |
| essv21606 | Remapped | Perfect | NC_000009.12:g.(69 485653_69485653)_( 69501890_69519460) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,485,653 | 69,501,890 | 69,519,460 |
| essv23164 | Remapped | Perfect | NC_000009.12:g.(69 485653_69485653)_( 69501890_69519460) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,485,653 | 69,501,890 | 69,519,460 |
| essv3839 | Remapped | Perfect | NC_000009.12:g.(69 485653_69485653)_( 69501890_69519460) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,485,653 | 69,501,890 | 69,519,460 |
| essv516 | Remapped | Perfect | NC_000009.12:g.(69 485653_69485653)_( 69501890_69519460) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 69,485,653 | 69,485,653 | 69,501,890 | 69,519,460 |
| essv11304 | Remapped | Perfect | NC_000009.11:g.(72 100569_72106629)_( 72116806_72134376) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,106,629 | 72,116,806 | 72,134,376 |
| essv14028 | Remapped | Perfect | NC_000009.11:g.(72 100569_72100569)_( 72116806_72134376) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,100,569 | 72,116,806 | 72,134,376 |
| essv21606 | Remapped | Perfect | NC_000009.11:g.(72 100569_72100569)_( 72116806_72134376) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,100,569 | 72,116,806 | 72,134,376 |
| essv23164 | Remapped | Perfect | NC_000009.11:g.(72 100569_72100569)_( 72116806_72134376) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,100,569 | 72,116,806 | 72,134,376 |
| essv3839 | Remapped | Perfect | NC_000009.11:g.(72 100569_72100569)_( 72116806_72134376) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,100,569 | 72,116,806 | 72,134,376 |
| essv516 | Remapped | Perfect | NC_000009.11:g.(72 100569_72100569)_( 72116806_72134376) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 72,100,569 | 72,100,569 | 72,116,806 | 72,134,376 |
| essv11304 | Submitted genomic | NC_000009.9:g.(693 30123_69336183)_(6 9346360_69363930)d up | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,336,183 | 69,346,360 | 69,363,930 | ||
| essv14028 | Submitted genomic | NC_000009.9:g.(693 30123_69330123)_(6 9346360_69363930)d up | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,330,123 | 69,346,360 | 69,363,930 | ||
| essv21606 | Submitted genomic | NC_000009.9:g.(693 30123_69330123)_(6 9346360_69363930)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,330,123 | 69,346,360 | 69,363,930 | ||
| essv23164 | Submitted genomic | NC_000009.9:g.(693 30123_69330123)_(6 9346360_69363930)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,330,123 | 69,346,360 | 69,363,930 | ||
| essv3839 | Submitted genomic | NC_000009.9:g.(693 30123_69330123)_(6 9346360_69363930)d up | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,330,123 | 69,346,360 | 69,363,930 | ||
| essv516 | Submitted genomic | NC_000009.9:g.(693 30123_69330123)_(6 9346360_69363930)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 69,330,123 | 69,330,123 | 69,346,360 | 69,363,930 |