esv2757293
- 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:211,974
- 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: 1437 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1437 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,887,685 |
| esv2757293 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,899,928 |
| esv2757293 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 137,757,137 | 137,969,110 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv17675 | copy number loss | NA10835 | SNP array | SNP genotyping analysis | 70 |
| essv18472 | copy number loss | NA11832 | SNP array | SNP genotyping analysis | 84 |
| essv18677 | copy number loss | NA12056 | SNP array | SNP genotyping analysis | 51 |
| essv20476 | copy number loss | NA12249 | SNP array | SNP genotyping analysis | 82 |
| essv20491 | copy number loss | NA12874 | SNP array | SNP genotyping analysis | 101 |
| essv20746 | copy number loss | NA07357 | SNP array | SNP genotyping analysis | 105 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv17675 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136887 685)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,887,685 |
| essv18472 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136887 685)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,887,685 |
| essv18677 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136873 905)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,873,905 |
| essv20476 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136851 683)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,851,683 |
| essv20491 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136851 683)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,851,683 |
| essv20746 | Remapped | Perfect | NC_000008.11:g.(13 6675712_136675712) _(136850192_136873 905)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,675,712 | 136,850,192 | 136,873,905 |
| essv17675 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137899 928)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,899,928 |
| essv18472 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137899 928)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,899,928 |
| essv18677 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137886 148)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,886,148 |
| essv20476 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137863 926)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,863,926 |
| essv20491 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137863 926)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,863,926 |
| essv20746 | Remapped | Perfect | NC_000008.10:g.(13 7687955_137687955) _(137862435_137886 148)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,687,955 | 137,862,435 | 137,886,148 |
| essv17675 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379691 10)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,969,110 | ||
| essv18472 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379691 10)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,969,110 | ||
| essv18677 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379553 30)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,955,330 | ||
| essv20476 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379331 08)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,933,108 | ||
| essv20491 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379331 08)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,933,108 | ||
| essv20746 | Submitted genomic | NC_000008.9:g.(137 757137_137757137)_ (137931617_1379553 30)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,137 | 137,757,137 | 137,931,617 | 137,955,330 |