esv2756873
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:250,927
- 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: 1431 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1431 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2756873 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,348,491 | 189,599,417 |
| esv2756873 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,317,621 | 189,568,547 |
| esv2756873 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 186,049,278 | 186,300,204 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5966 | copy number loss | NA18552 | SNP array | SNP genotyping analysis | 99 |
| essv1063 | copy number loss | NA18975 | SNP array | SNP genotyping analysis | 86 |
| essv5425 | copy number loss | NA18542 | SNP array | SNP genotyping analysis | 68 |
| essv5879 | copy number loss | NA18562 | SNP array | SNP genotyping analysis | 65 |
| essv3253 | copy number loss | NA18967 | SNP array | SNP genotyping analysis | 102 |
| essv964 | copy number loss | NA18981 | SNP array | SNP genotyping analysis | 141 |
| essv6420 | copy number loss | NA18545 | SNP array | SNP genotyping analysis | 120 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5966 | Remapped | Perfect | NC_000001.11:g.(18 9348491_189378024) _(189566554_189566 554)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,348,491 | 189,378,024 | 189,566,554 | 189,566,554 |
| essv1063 | Remapped | Perfect | NC_000001.11:g.(18 9350431_189378024) _(189566554_189566 554)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,350,431 | 189,378,024 | 189,566,554 | 189,566,554 |
| essv5425 | Remapped | Perfect | NC_000001.11:g.(18 9350431_189378024) _(189566554_189599 417)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,350,431 | 189,378,024 | 189,566,554 | 189,599,417 |
| essv5879 | Remapped | Perfect | NC_000001.11:g.(18 9378024_189518919) _(189551118_189583 406)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,378,024 | 189,518,919 | 189,551,118 | 189,583,406 |
| essv3253 | Remapped | Perfect | NC_000001.11:g.(18 9378024_189378024) _(189566554_189583 406)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,378,024 | 189,378,024 | 189,566,554 | 189,583,406 |
| essv964 | Remapped | Perfect | NC_000001.11:g.(18 9378024_189378024) _(189566554_189578 427)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,378,024 | 189,378,024 | 189,566,554 | 189,578,427 |
| essv6420 | Remapped | Perfect | NC_000001.11:g.(18 9522272_189542237) _(189546636_189551 118)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,522,272 | 189,542,237 | 189,546,636 | 189,551,118 |
| essv5966 | Remapped | Perfect | NC_000001.10:g.(18 9317621_189347154) _(189535684_189535 684)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,317,621 | 189,347,154 | 189,535,684 | 189,535,684 |
| essv1063 | Remapped | Perfect | NC_000001.10:g.(18 9319561_189347154) _(189535684_189535 684)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,319,561 | 189,347,154 | 189,535,684 | 189,535,684 |
| essv5425 | Remapped | Perfect | NC_000001.10:g.(18 9319561_189347154) _(189535684_189568 547)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,319,561 | 189,347,154 | 189,535,684 | 189,568,547 |
| essv5879 | Remapped | Perfect | NC_000001.10:g.(18 9347154_189488049) _(189520248_189552 536)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,347,154 | 189,488,049 | 189,520,248 | 189,552,536 |
| essv3253 | Remapped | Perfect | NC_000001.10:g.(18 9347154_189347154) _(189535684_189552 536)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,347,154 | 189,347,154 | 189,535,684 | 189,552,536 |
| essv964 | Remapped | Perfect | NC_000001.10:g.(18 9347154_189347154) _(189535684_189547 557)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,347,154 | 189,347,154 | 189,535,684 | 189,547,557 |
| essv6420 | Remapped | Perfect | NC_000001.10:g.(18 9491402_189511367) _(189515766_189520 248)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,491,402 | 189,511,367 | 189,515,766 | 189,520,248 |
| essv5966 | Submitted genomic | NC_000001.8:g.(186 049278_186078811)_ (186267341_1862673 41)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,049,278 | 186,078,811 | 186,267,341 | 186,267,341 | ||
| essv1063 | Submitted genomic | NC_000001.8:g.(186 051218_186078811)_ (186267341_1862673 41)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,051,218 | 186,078,811 | 186,267,341 | 186,267,341 | ||
| essv5425 | Submitted genomic | NC_000001.8:g.(186 051218_186078811)_ (186267341_1863002 04)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,051,218 | 186,078,811 | 186,267,341 | 186,300,204 | ||
| essv5879 | Submitted genomic | NC_000001.8:g.(186 078811_186219706)_ (186251905_1862841 93)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,078,811 | 186,219,706 | 186,251,905 | 186,284,193 | ||
| essv3253 | Submitted genomic | NC_000001.8:g.(186 078811_186078811)_ (186267341_1862841 93)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,078,811 | 186,078,811 | 186,267,341 | 186,284,193 | ||
| essv964 | Submitted genomic | NC_000001.8:g.(186 078811_186078811)_ (186267341_1862792 14)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,078,811 | 186,078,811 | 186,267,341 | 186,279,214 | ||
| essv6420 | Submitted genomic | NC_000001.8:g.(186 223059_186243024)_ (186247423_1862519 05)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,223,059 | 186,243,024 | 186,247,423 | 186,251,905 |