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Items: 1 to 20 of 1085

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv16739copy number variation1estd20human NCBI36 chr2: 205,607,015-205,836,229 , GRCh37.p13 chr2: 205,898,770-206,127,984 , GRCh38.p12 chr2: 205,034,047-205,263,260 PARD3B
    esv16507copy number variation1estd20human NCBI36 chr10: 56,889,479-56,961,505 , GRCh37.p13 chr10: 57,219,473-57,291,499 , GRCh38.p12 chr10: 55,459,713-55,531,739 PCDH15
    esv20927copy number variation5estd20human NCBI36 chr7: 64,204,377-64,274,741 , GRCh37.p13 chr7: 64,566,942-64,637,306 , GRCh38.p12 chr7: 65,106,564-65,176,928 INTS4P1
    esv20564copy number variation21estd20human NCBI36 chr10: 37,477,659-37,535,427 , GRCh37.p13 chr10: 37,437,653-37,495,421 , GRCh38.p12 chr10: 37,148,725-37,206,493 ANKRD30A
    esv11182copy number variation4estd20human NCBI36 chr1: 17,102,200-17,153,475 , GRCh37.p13 chr1: 17,229,613-17,280,888 , GRCh38.p12 chr1: 16,903,118-16,954,393 CROCC
    esv11812copy number variation28estd20human NCBI36 chr20: 1,500,338-1,544,222 , GRCh37.p13 chr20: 1,552,338-1,596,222 , GRCh38.p12 chr20: 1,571,692-1,615,576 SIRPB1
    esv12997copy number variation3estd20human NCBI36 chr7: 141,406,103-141,441,024 , GRCh37.p13 chr7|NW_003571040.1: 201,785-236,706 , GRCh37.p13 chr7: 141,759,634-141,794,555 , GRCh38.p12 chr7|NT_187562.1: 21,714-56,635 , GRCh38.p12 chr7: 142,059,834-142,094,755 MGAM
    esv13349copy number variation10estd20human NCBI36 chr10: 81,143,827-81,174,494 , GRCh37.p13 chr10: 81,473,821-81,504,488 , GRCh38.p12 chr10: 79,714,065-79,744,732 NUTM2B-AS1
    esv14932copy number variation9estd20human NCBI36 chr10: 81,465,041-81,494,668 , GRCh37.p13 chr10: 81,474,847-81,504,486 , GRCh38.p12 chr10: 79,715,091-79,744,730 NUTM2B-AS1
    esv12461copy number variation6estd20human NCBI36 chr10: 88,987,160-89,016,734 , GRCh37.p13 chr10: 88,997,180-89,026,754 , GRCh38.p12 chr10: 87,237,423-87,266,997 NUTM2A-AS1
    esv21190copy number variation5estd20human NCBI36 chr1: 2,577,782-2,604,497 , GRCh37.p13 chr1: 2,587,922-2,614,637 , GRCh38.p12 chr1: 2,656,483-2,683,198 , GRCh38.p12 chr1|NT_187515.1: 219,010-243,773 TTC34
    esv15136copy number variation40estd20human NCBI36 chr10: 56,116,082-56,139,577 , GRCh37.p13 chr10: 56,446,076-56,469,571 , GRCh38.p12 chr10: 54,686,316-54,709,811 PCDH15
    esv18824copy number variation22estd20human NCBI36 chr10: 18,881,143-18,902,755 , GRCh37.p13 chr10: 18,841,137-18,862,749 , GRCh38.p12 chr10: 18,552,208-18,573,820 NSUN6
    esv19413copy number variation34estd20human NCBI36 chr15: 82,606,345-82,625,912 , GRCh37.p13 chr15: 84,815,341-84,834,908 , GRCh38.p12 chr15: 84,146,589-84,166,156 DNM1P41
    esv10276copy number variation23estd20human NCBI36 chr7: 126,301,909-126,320,398 , GRCh37.p13 chr7: 126,514,673-126,533,162 , GRCh38.p12 chr7: 126,874,619-126,893,108 GRM8
    esv10316copy number variation31estd20human NCBI36 chr7: 64,657,580-64,675,115 , GRCh37.p13 chr7|NW_004775430.1: 8,063-25,598 , GRCh37.p13 chr7: 65,020,145-65,037,680 , GRCh38.p12 chr7: 65,555,232-65,572,767 LOC101929322
    esv19425copy number variation20estd20human NCBI36 chr8: 47,665,052-47,682,377 , GRCh37.p13 chr8: 47,545,887-47,563,212 , GRCh38.p12 chr8: 46,634,265-46,651,590 LOC105375811
    esv12068copy number variation14estd20human NCBI36 chr7: 100,419,557-100,436,582 , GRCh37.p13 chr7: 100,632,837-100,649,862 , GRCh38.p12 chr7: 100,989,556-101,006,581 MUC12
    esv15836copy number variation33estd20human NCBI36 chr10: 124,350,342-124,366,814 , GRCh37.p13 chr10: 124,360,352-124,376,824 , GRCh38.p12 chr10: 122,600,836-122,617,308 DMBT1
    esv19192copy number variation25estd20human NCBI36 chr15: 20,373,618-20,385,337 , GRCh37.p13 chr15: 22,822,254-22,833,896 , GRCh38.p12 chr15: 23,039,172-23,050,814 , GRCh38.p12 chr15|NT_187659.1: 3,905-20,165 , GRCh38.p12 chr15|NT_187603.1: 136,193-150,811 TUBGCP5
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