esv2757038
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,001
- 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: 287 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 11,659,618 | 11,670,618 |
| esv2757038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 11,661,242 | 11,672,242 |
| esv2757038 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 11,337,511 | 11,348,511 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv12111 | copy number loss | NA19173 | SNP array | SNP genotyping analysis | 146 |
| essv8411 | copy number loss | NA19093 | SNP array | SNP genotyping analysis | 98 |
| essv13405 | copy number loss | NA18872 | SNP array | SNP genotyping analysis | 115 |
| essv12925 | copy number loss | NA19094 | SNP array | SNP genotyping analysis | 121 |
| essv14921 | copy number loss | NA19129 | SNP array | SNP genotyping analysis | 161 |
| essv15446 | copy number loss | NA19206 | SNP array | SNP genotyping analysis | 114 |
| essv16373 | copy number loss | NA19172 | SNP array | SNP genotyping analysis | 89 |
| essv8688 | copy number loss | NA18912 | SNP array | SNP genotyping analysis | 125 |
| essv8895 | copy number loss | NA19171 | SNP array | SNP genotyping analysis | 138 |
| essv9852 | copy number loss | NA19144 | SNP array | SNP genotyping analysis | 157 |
| essv11325 | copy number loss | NA19128 | SNP array | SNP genotyping analysis | 131 |
| essv11356 | copy number loss | NA18858 | SNP array | SNP genotyping analysis | 74 |
| essv16602 | copy number loss | NA18860 | SNP array | SNP genotyping analysis | 83 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv12111 | Remapped | Perfect | NC_000004.12:g.(11 659618_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,659,618 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv8411 | Remapped | Perfect | NC_000004.12:g.(11 659618_11660399)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,659,618 | 11,660,399 | 11,668,478 | 11,670,618 |
| essv13405 | Remapped | Perfect | NC_000004.12:g.(11 660399_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,660,399 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv12925 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv14921 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv15446 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv16373 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11668478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,668,478 |
| essv8688 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11668478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,668,478 |
| essv8895 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv9852 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,668,478 | 11,670,618 |
| essv11325 | Remapped | Perfect | NC_000004.12:g.(11 664768_11664768)_( 11670618_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,664,768 | 11,670,618 | 11,670,618 |
| essv11356 | Remapped | Perfect | NC_000004.12:g.(11 664768_11665022)_( 11670618_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,664,768 | 11,665,022 | 11,670,618 | 11,670,618 |
| essv16602 | Remapped | Perfect | NC_000004.12:g.(11 665022_11665022)_( 11668478_11670618) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,665,022 | 11,665,022 | 11,668,478 | 11,670,618 |
| essv12111 | Remapped | Perfect | NC_000004.11:g.(11 661242_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,661,242 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv8411 | Remapped | Perfect | NC_000004.11:g.(11 661242_11662023)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,661,242 | 11,662,023 | 11,670,102 | 11,672,242 |
| essv13405 | Remapped | Perfect | NC_000004.11:g.(11 662023_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,662,023 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv12925 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv14921 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv15446 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv16373 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11670102) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,670,102 |
| essv8688 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11670102) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,670,102 |
| essv8895 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv9852 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,670,102 | 11,672,242 |
| essv11325 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666392)_( 11672242_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,392 | 11,672,242 | 11,672,242 |
| essv11356 | Remapped | Perfect | NC_000004.11:g.(11 666392_11666646)_( 11672242_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,392 | 11,666,646 | 11,672,242 | 11,672,242 |
| essv16602 | Remapped | Perfect | NC_000004.11:g.(11 666646_11666646)_( 11670102_11672242) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 11,666,646 | 11,666,646 | 11,670,102 | 11,672,242 |
| essv12111 | Submitted genomic | NC_000004.9:g.(113 37511_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,337,511 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv8411 | Submitted genomic | NC_000004.9:g.(113 37511_11338292)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,337,511 | 11,338,292 | 11,346,371 | 11,348,511 | ||
| essv13405 | Submitted genomic | NC_000004.9:g.(113 38292_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,338,292 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv12925 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv14921 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv15446 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv16373 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11346371)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,346,371 | ||
| essv8688 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11346371)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,346,371 | ||
| essv8895 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv9852 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,346,371 | 11,348,511 | ||
| essv11325 | Submitted genomic | NC_000004.9:g.(113 42661_11342661)_(1 1348511_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,661 | 11,348,511 | 11,348,511 | ||
| essv11356 | Submitted genomic | NC_000004.9:g.(113 42661_11342915)_(1 1348511_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,661 | 11,342,915 | 11,348,511 | 11,348,511 | ||
| essv16602 | Submitted genomic | NC_000004.9:g.(113 42915_11342915)_(1 1346371_11348511)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 11,342,915 | 11,342,915 | 11,346,371 | 11,348,511 |