esv2757466
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,727
- 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: 493 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 493 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757466 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 93,943,058 | 93,981,784 |
| esv2757466 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 93,676,224 | 93,714,950 |
| esv2757466 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 93,315,872 | 93,354,598 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv20499 | copy number loss | NA12874 | SNP array | SNP genotyping analysis | 101 |
| essv6785 | copy number loss | NA18594 | SNP array | SNP genotyping analysis | 80 |
| essv10715 | copy number loss | NA18508 | SNP array | SNP genotyping analysis | 123 |
| essv11480 | copy number loss | NA18856 | SNP array | SNP genotyping analysis | 100 |
| essv12143 | copy number gain | NA18505 | SNP array | SNP genotyping analysis | 103 |
| essv13211 | copy number loss | NA19120 | SNP array | SNP genotyping analysis | 112 |
| essv15971 | copy number loss | NA19142 | SNP array | SNP genotyping analysis | 135 |
| essv16173 | copy number loss | NA18506 | SNP array | SNP genotyping analysis | 121 |
| essv19827 | copy number loss | NA10847 | SNP array | SNP genotyping analysis | 59 |
| essv23644 | copy number loss | NA07055 | SNP array | SNP genotyping analysis | 51 |
| essv25035 | copy number loss | NA12801 | SNP array | SNP genotyping analysis | 120 |
| essv8683 | copy number loss | NA18912 | SNP array | SNP genotyping analysis | 125 |
| essv9524 | copy number loss | NA19223 | SNP array | SNP genotyping analysis | 116 |
| essv12012 | copy number loss | NA19141 | SNP array | SNP genotyping analysis | 83 |
| essv22723 | copy number loss | NA12239 | SNP array | SNP genotyping analysis | 81 |
| essv3672 | copy number loss | NA18943 | SNP array | SNP genotyping analysis | 63 |
| essv6472 | copy number loss | NA18637 | SNP array | SNP genotyping analysis | 70 |
| essv14828 | copy number loss | NA19119 | SNP array | SNP genotyping analysis | 107 |
| essv19157 | copy number loss | NA12812 | SNP array | SNP genotyping analysis | 115 |
| essv24450 | copy number loss | NA12865 | SNP array | SNP genotyping analysis | 73 |
| essv8008 | copy number loss | NA19221 | SNP array | SNP genotyping analysis | 89 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv20499 | Remapped | Perfect | NC_000011.10:g.(93 943058_93948271)_( 93954614_93971294) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,943,058 | 93,948,271 | 93,954,614 | 93,971,294 |
| essv6785 | Remapped | Perfect | NC_000011.10:g.(93 943058_93948271)_( 93954614_93964894) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,943,058 | 93,948,271 | 93,954,614 | 93,964,894 |
| essv10715 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957317) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,317 |
| essv11480 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93971294) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,971,294 |
| essv12143 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93954614) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,954,614 |
| essv13211 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93964894) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,964,894 |
| essv15971 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93958166) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,958,166 |
| essv16173 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957317) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,317 |
| essv19827 | Remapped | Perfect | NC_000011.10:g.(93 945770_93945809)_( 93954614_93964894) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,945,809 | 93,954,614 | 93,964,894 |
| essv23644 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957842) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,842 |
| essv25035 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957842) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,842 |
| essv8683 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957317) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,317 |
| essv9524 | Remapped | Perfect | NC_000011.10:g.(93 945770_93948271)_( 93954614_93957317) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,770 | 93,948,271 | 93,954,614 | 93,957,317 |
| essv12012 | Remapped | Perfect | NC_000011.10:g.(93 945809_93948271)_( 93954614_93958166) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,809 | 93,948,271 | 93,954,614 | 93,958,166 |
| essv22723 | Remapped | Perfect | NC_000011.10:g.(93 945809_93948271)_( 93954614_93957317) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,809 | 93,948,271 | 93,954,614 | 93,957,317 |
| essv3672 | Remapped | Perfect | NC_000011.10:g.(93 945809_93948271)_( 93954614_93954614) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,809 | 93,948,271 | 93,954,614 | 93,954,614 |
| essv6472 | Remapped | Perfect | NC_000011.10:g.(93 945809_93948271)_( 93954614_93981784) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,945,809 | 93,948,271 | 93,954,614 | 93,981,784 |
| essv14828 | Remapped | Perfect | NC_000011.10:g.(93 948271_93948271)_( 93954509_93954509) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,948,271 | 93,948,271 | 93,954,509 | 93,954,509 |
| essv19157 | Remapped | Perfect | NC_000011.10:g.(93 948271_93948271)_( 93954614_93964894) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,948,271 | 93,948,271 | 93,954,614 | 93,964,894 |
| essv24450 | Remapped | Perfect | NC_000011.10:g.(93 948271_93948271)_( 93954614_93957842) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,948,271 | 93,948,271 | 93,954,614 | 93,957,842 |
| essv8008 | Remapped | Perfect | NC_000011.10:g.(93 948271_93948271)_( 93954614_93957842) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 93,948,271 | 93,948,271 | 93,954,614 | 93,957,842 |
| essv20499 | Remapped | Perfect | NC_000011.9:g.(936 76224_93681437)_(9 3687780_93704460)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,676,224 | 93,681,437 | 93,687,780 | 93,704,460 |
| essv6785 | Remapped | Perfect | NC_000011.9:g.(936 76224_93681437)_(9 3687780_93698060)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,676,224 | 93,681,437 | 93,687,780 | 93,698,060 |
| essv10715 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93690483)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,690,483 |
| essv11480 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93704460)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,704,460 |
| essv12143 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93687780)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,687,780 |
| essv13211 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93698060)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,698,060 |
| essv15971 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93691332)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,691,332 |
| essv16173 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93690483)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,690,483 |
| essv19827 | Remapped | Perfect | NC_000011.9:g.(936 78936_93678975)_(9 3687780_93698060)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,678,975 | 93,687,780 | 93,698,060 |
| essv23644 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93691008)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,691,008 |
| essv25035 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93691008)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,691,008 |
| essv8683 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93690483)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,690,483 |
| essv9524 | Remapped | Perfect | NC_000011.9:g.(936 78936_93681437)_(9 3687780_93690483)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,936 | 93,681,437 | 93,687,780 | 93,690,483 |
| essv12012 | Remapped | Perfect | NC_000011.9:g.(936 78975_93681437)_(9 3687780_93691332)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,975 | 93,681,437 | 93,687,780 | 93,691,332 |
| essv22723 | Remapped | Perfect | NC_000011.9:g.(936 78975_93681437)_(9 3687780_93690483)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,975 | 93,681,437 | 93,687,780 | 93,690,483 |
| essv3672 | Remapped | Perfect | NC_000011.9:g.(936 78975_93681437)_(9 3687780_93687780)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,975 | 93,681,437 | 93,687,780 | 93,687,780 |
| essv6472 | Remapped | Perfect | NC_000011.9:g.(936 78975_93681437)_(9 3687780_93714950)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,678,975 | 93,681,437 | 93,687,780 | 93,714,950 |
| essv14828 | Remapped | Perfect | NC_000011.9:g.(936 81437_93681437)_(9 3687675_93687675)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,681,437 | 93,681,437 | 93,687,675 | 93,687,675 |
| essv19157 | Remapped | Perfect | NC_000011.9:g.(936 81437_93681437)_(9 3687780_93698060)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,681,437 | 93,681,437 | 93,687,780 | 93,698,060 |
| essv24450 | Remapped | Perfect | NC_000011.9:g.(936 81437_93681437)_(9 3687780_93691008)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,681,437 | 93,681,437 | 93,687,780 | 93,691,008 |
| essv8008 | Remapped | Perfect | NC_000011.9:g.(936 81437_93681437)_(9 3687780_93691008)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 93,681,437 | 93,681,437 | 93,687,780 | 93,691,008 |
| essv20499 | Submitted genomic | NC_000011.8:g.(933 15872_93321085)_(9 3327428_93344108)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,315,872 | 93,321,085 | 93,327,428 | 93,344,108 | ||
| essv6785 | Submitted genomic | NC_000011.8:g.(933 15872_93321085)_(9 3327428_93337708)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,315,872 | 93,321,085 | 93,327,428 | 93,337,708 | ||
| essv10715 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330131)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,131 | ||
| essv11480 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93344108)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,344,108 | ||
| essv12143 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93327428)d up | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,327,428 | ||
| essv13211 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93337708)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,337,708 | ||
| essv15971 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330980)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,980 | ||
| essv16173 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330131)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,131 | ||
| essv19827 | Submitted genomic | NC_000011.8:g.(933 18584_93318623)_(9 3327428_93337708)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,318,623 | 93,327,428 | 93,337,708 | ||
| essv23644 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330656)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,656 | ||
| essv25035 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330656)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,656 | ||
| essv8683 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330131)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,131 | ||
| essv9524 | Submitted genomic | NC_000011.8:g.(933 18584_93321085)_(9 3327428_93330131)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,584 | 93,321,085 | 93,327,428 | 93,330,131 | ||
| essv12012 | Submitted genomic | NC_000011.8:g.(933 18623_93321085)_(9 3327428_93330980)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,623 | 93,321,085 | 93,327,428 | 93,330,980 | ||
| essv22723 | Submitted genomic | NC_000011.8:g.(933 18623_93321085)_(9 3327428_93330131)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,623 | 93,321,085 | 93,327,428 | 93,330,131 | ||
| essv3672 | Submitted genomic | NC_000011.8:g.(933 18623_93321085)_(9 3327428_93327428)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,623 | 93,321,085 | 93,327,428 | 93,327,428 | ||
| essv6472 | Submitted genomic | NC_000011.8:g.(933 18623_93321085)_(9 3327428_93354598)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,318,623 | 93,321,085 | 93,327,428 | 93,354,598 | ||
| essv14828 | Submitted genomic | NC_000011.8:g.(933 21085_93321085)_(9 3327323_93327323)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,321,085 | 93,321,085 | 93,327,323 | 93,327,323 | ||
| essv19157 | Submitted genomic | NC_000011.8:g.(933 21085_93321085)_(9 3327428_93337708)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,321,085 | 93,321,085 | 93,327,428 | 93,337,708 | ||
| essv24450 | Submitted genomic | NC_000011.8:g.(933 21085_93321085)_(9 3327428_93330656)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,321,085 | 93,321,085 | 93,327,428 | 93,330,656 | ||
| essv8008 | Submitted genomic | NC_000011.8:g.(933 21085_93321085)_(9 3327428_93330656)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 93,321,085 | 93,321,085 | 93,327,428 | 93,330,656 |