esv2757376
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:69,062
- 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: 548 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757376 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 26,872,003 | 26,941,064 |
| esv2757376 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 27,160,932 | 27,229,993 |
| esv2757376 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 27,200,938 | 27,269,999 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv19744 | copy number gain | NA10859 | SNP array | SNP genotyping analysis | 76 |
| essv24336 | copy number gain | NA11882 | SNP array | SNP genotyping analysis | 77 |
| essv18492 | copy number gain | NA12156 | SNP array | SNP genotyping analysis | 73 |
| essv19832 | copy number gain | NA10847 | SNP array | SNP genotyping analysis | 59 |
| essv19883 | copy number gain | NA11881 | SNP array | SNP genotyping analysis | 56 |
| essv20467 | copy number gain | NA12249 | SNP array | SNP genotyping analysis | 82 |
| essv25113 | copy number gain | NA10856 | SNP array | SNP genotyping analysis | 116 |
| essv17856 | copy number gain | NA10857 | SNP array | SNP genotyping analysis | 107 |
| essv19120 | copy number gain | NA12044 | SNP array | SNP genotyping analysis | 90 |
| essv19308 | copy number gain | NA07022 | SNP array | SNP genotyping analysis | 54 |
| essv20839 | copy number gain | NA11829 | SNP array | SNP genotyping analysis | 120 |
| essv21586 | copy number gain | NA12146 | SNP array | SNP genotyping analysis | 71 |
| essv21631 | copy number loss | NA07348 | SNP array | SNP genotyping analysis | 99 |
| essv22725 | copy number gain | NA12239 | SNP array | SNP genotyping analysis | 81 |
| essv23152 | copy number gain | NA10831 | SNP array | SNP genotyping analysis | 132 |
| essv24454 | copy number gain | NA12865 | SNP array | SNP genotyping analysis | 73 |
| essv19380 | copy number gain | NA07019 | SNP array | SNP genotyping analysis | 69 |
| essv23751 | copy number gain | NA11994 | SNP array | SNP genotyping analysis | 55 |
| essv20744 | copy number loss | NA07357 | SNP array | SNP genotyping analysis | 105 |
| essv17677 | copy number gain | NA10835 | SNP array | SNP genotyping analysis | 70 |
| essv20719 | copy number gain | NA12752 | SNP array | SNP genotyping analysis | 84 |
| essv22257 | copy number gain | NA11992 | SNP array | SNP genotyping analysis | 70 |
| essv25069 | copy number gain | NA12892 | SNP array | SNP genotyping analysis | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv19744 | Remapped | Perfect | NC_000010.11:g.(26 872003_26933391)_( 26938752_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,872,003 | 26,933,391 | 26,938,752 | 26,940,998 |
| essv24336 | Remapped | Perfect | NC_000010.11:g.(26 876166_26903835)_( 26939510_26939510) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,876,166 | 26,903,835 | 26,939,510 | 26,939,510 |
| essv18492 | Remapped | Perfect | NC_000010.11:g.(26 903350_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,350 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv19832 | Remapped | Perfect | NC_000010.11:g.(26 903350_26903835)_( 26939510_26941064) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,350 | 26,903,835 | 26,939,510 | 26,941,064 |
| essv19883 | Remapped | Perfect | NC_000010.11:g.(26 903350_26936718)_( 26939510_26939510) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,350 | 26,936,718 | 26,939,510 | 26,939,510 |
| essv20467 | Remapped | Perfect | NC_000010.11:g.(26 903350_26936718)_( 26939510_26941064) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,350 | 26,936,718 | 26,939,510 | 26,941,064 |
| essv25113 | Remapped | Perfect | NC_000010.11:g.(26 903835_26933391)_( 26938752_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,933,391 | 26,938,752 | 26,940,998 |
| essv17856 | Remapped | Perfect | NC_000010.11:g.(26 903835_26933391)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,933,391 | 26,939,510 | 26,940,998 |
| essv19120 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv19308 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936718)_( 26939510_26941064) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,718 | 26,939,510 | 26,941,064 |
| essv20839 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936975)_( 26939510_26941064) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,975 | 26,939,510 | 26,941,064 |
| essv21586 | Remapped | Perfect | NC_000010.11:g.(26 903835_26933391)_( 26939510_26941064) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,933,391 | 26,939,510 | 26,941,064 |
| essv21631 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936975)_( 26939510_26940998) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,975 | 26,939,510 | 26,940,998 |
| essv22725 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936975)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,975 | 26,939,510 | 26,940,998 |
| essv23152 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv24454 | Remapped | Perfect | NC_000010.11:g.(26 903835_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,903,835 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv19380 | Remapped | Perfect | NC_000010.11:g.(26 933391_26936975)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,933,391 | 26,936,975 | 26,939,510 | 26,940,998 |
| essv23751 | Remapped | Perfect | NC_000010.11:g.(26 933391_26936718)_( 26939510_26939510) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,933,391 | 26,936,718 | 26,939,510 | 26,939,510 |
| essv20744 | Remapped | Perfect | NC_000010.11:g.(26 934713_26936975)_( 26939510_26940998) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,934,713 | 26,936,975 | 26,939,510 | 26,940,998 |
| essv17677 | Remapped | Perfect | NC_000010.11:g.(26 936718_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,936,718 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv20719 | Remapped | Perfect | NC_000010.11:g.(26 936718_26936718)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,936,718 | 26,936,718 | 26,939,510 | 26,940,998 |
| essv22257 | Remapped | Perfect | NC_000010.11:g.(26 936718_26936975)_( 26939510_26939510) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,936,718 | 26,936,975 | 26,939,510 | 26,939,510 |
| essv25069 | Remapped | Perfect | NC_000010.11:g.(26 936718_26936975)_( 26939510_26940998) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,936,718 | 26,936,975 | 26,939,510 | 26,940,998 |
| essv19744 | Remapped | Perfect | NC_000010.10:g.(27 160932_27222320)_( 27227681_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,160,932 | 27,222,320 | 27,227,681 | 27,229,927 |
| essv24336 | Remapped | Perfect | NC_000010.10:g.(27 165095_27192764)_( 27228439_27228439) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,165,095 | 27,192,764 | 27,228,439 | 27,228,439 |
| essv18492 | Remapped | Perfect | NC_000010.10:g.(27 192279_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,279 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv19832 | Remapped | Perfect | NC_000010.10:g.(27 192279_27192764)_( 27228439_27229993) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,279 | 27,192,764 | 27,228,439 | 27,229,993 |
| essv19883 | Remapped | Perfect | NC_000010.10:g.(27 192279_27225647)_( 27228439_27228439) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,279 | 27,225,647 | 27,228,439 | 27,228,439 |
| essv20467 | Remapped | Perfect | NC_000010.10:g.(27 192279_27225647)_( 27228439_27229993) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,279 | 27,225,647 | 27,228,439 | 27,229,993 |
| essv25113 | Remapped | Perfect | NC_000010.10:g.(27 192764_27222320)_( 27227681_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,222,320 | 27,227,681 | 27,229,927 |
| essv17856 | Remapped | Perfect | NC_000010.10:g.(27 192764_27222320)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,222,320 | 27,228,439 | 27,229,927 |
| essv19120 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv19308 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225647)_( 27228439_27229993) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,647 | 27,228,439 | 27,229,993 |
| essv20839 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225904)_( 27228439_27229993) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,904 | 27,228,439 | 27,229,993 |
| essv21586 | Remapped | Perfect | NC_000010.10:g.(27 192764_27222320)_( 27228439_27229993) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,222,320 | 27,228,439 | 27,229,993 |
| essv21631 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225904)_( 27228439_27229927) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,904 | 27,228,439 | 27,229,927 |
| essv22725 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225904)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,904 | 27,228,439 | 27,229,927 |
| essv23152 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv24454 | Remapped | Perfect | NC_000010.10:g.(27 192764_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,192,764 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv19380 | Remapped | Perfect | NC_000010.10:g.(27 222320_27225904)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,222,320 | 27,225,904 | 27,228,439 | 27,229,927 |
| essv23751 | Remapped | Perfect | NC_000010.10:g.(27 222320_27225647)_( 27228439_27228439) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,222,320 | 27,225,647 | 27,228,439 | 27,228,439 |
| essv20744 | Remapped | Perfect | NC_000010.10:g.(27 223642_27225904)_( 27228439_27229927) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,223,642 | 27,225,904 | 27,228,439 | 27,229,927 |
| essv17677 | Remapped | Perfect | NC_000010.10:g.(27 225647_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,225,647 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv20719 | Remapped | Perfect | NC_000010.10:g.(27 225647_27225647)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,225,647 | 27,225,647 | 27,228,439 | 27,229,927 |
| essv22257 | Remapped | Perfect | NC_000010.10:g.(27 225647_27225904)_( 27228439_27228439) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,225,647 | 27,225,904 | 27,228,439 | 27,228,439 |
| essv25069 | Remapped | Perfect | NC_000010.10:g.(27 225647_27225904)_( 27228439_27229927) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 27,225,647 | 27,225,904 | 27,228,439 | 27,229,927 |
| essv19744 | Submitted genomic | NC_000010.8:g.(272 00938_27262326)_(2 7267687_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,200,938 | 27,262,326 | 27,267,687 | 27,269,933 | ||
| essv24336 | Submitted genomic | NC_000010.8:g.(272 05101_27232770)_(2 7268445_27268445)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,205,101 | 27,232,770 | 27,268,445 | 27,268,445 | ||
| essv18492 | Submitted genomic | NC_000010.8:g.(272 32285_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,285 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv19832 | Submitted genomic | NC_000010.8:g.(272 32285_27232770)_(2 7268445_27269999)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,285 | 27,232,770 | 27,268,445 | 27,269,999 | ||
| essv19883 | Submitted genomic | NC_000010.8:g.(272 32285_27265653)_(2 7268445_27268445)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,285 | 27,265,653 | 27,268,445 | 27,268,445 | ||
| essv20467 | Submitted genomic | NC_000010.8:g.(272 32285_27265653)_(2 7268445_27269999)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,285 | 27,265,653 | 27,268,445 | 27,269,999 | ||
| essv25113 | Submitted genomic | NC_000010.8:g.(272 32770_27262326)_(2 7267687_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,262,326 | 27,267,687 | 27,269,933 | ||
| essv17856 | Submitted genomic | NC_000010.8:g.(272 32770_27262326)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,262,326 | 27,268,445 | 27,269,933 | ||
| essv19120 | Submitted genomic | NC_000010.8:g.(272 32770_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv19308 | Submitted genomic | NC_000010.8:g.(272 32770_27265653)_(2 7268445_27269999)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,653 | 27,268,445 | 27,269,999 | ||
| essv20839 | Submitted genomic | NC_000010.8:g.(272 32770_27265910)_(2 7268445_27269999)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,910 | 27,268,445 | 27,269,999 | ||
| essv21586 | Submitted genomic | NC_000010.8:g.(272 32770_27262326)_(2 7268445_27269999)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,262,326 | 27,268,445 | 27,269,999 | ||
| essv21631 | Submitted genomic | NC_000010.8:g.(272 32770_27265910)_(2 7268445_27269933)d el | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,910 | 27,268,445 | 27,269,933 | ||
| essv22725 | Submitted genomic | NC_000010.8:g.(272 32770_27265910)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,910 | 27,268,445 | 27,269,933 | ||
| essv23152 | Submitted genomic | NC_000010.8:g.(272 32770_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv24454 | Submitted genomic | NC_000010.8:g.(272 32770_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,232,770 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv19380 | Submitted genomic | NC_000010.8:g.(272 62326_27265910)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,262,326 | 27,265,910 | 27,268,445 | 27,269,933 | ||
| essv23751 | Submitted genomic | NC_000010.8:g.(272 62326_27265653)_(2 7268445_27268445)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,262,326 | 27,265,653 | 27,268,445 | 27,268,445 | ||
| essv20744 | Submitted genomic | NC_000010.8:g.(272 63648_27265910)_(2 7268445_27269933)d el | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,263,648 | 27,265,910 | 27,268,445 | 27,269,933 | ||
| essv17677 | Submitted genomic | NC_000010.8:g.(272 65653_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,265,653 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv20719 | Submitted genomic | NC_000010.8:g.(272 65653_27265653)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,265,653 | 27,265,653 | 27,268,445 | 27,269,933 | ||
| essv22257 | Submitted genomic | NC_000010.8:g.(272 65653_27265910)_(2 7268445_27268445)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,265,653 | 27,265,910 | 27,268,445 | 27,268,445 | ||
| essv25069 | Submitted genomic | NC_000010.8:g.(272 65653_27265910)_(2 7268445_27269933)d up | NCBI35 (hg17) | NC_000010.8 | Chr10 | 27,265,653 | 27,265,910 | 27,268,445 | 27,269,933 |