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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3584845copy number variation1estd213human GRCh38.p12 chr6: 51,574,636-51,614,567 , NCBI36 chr6: 51,547,393-51,587,324 , GRCh37.p13 chr6: 51,439,434-51,479,365 PKHD1
    esv3584636copy number variation1estd213human NCBI36 chr11: 18,905,648-18,918,564 , GRCh37.p13 chr11: 18,949,072-18,961,988 , GRCh38.p12 chr11: 18,927,525-18,940,441 MRGPRX1
    esv3584623copy number variation1estd213human GRCh38.p12 chr10: 89,183,210-89,188,333 , NCBI36 chr10: 90,932,947-90,938,070 , GRCh37.p13 chr10: 90,942,967-90,948,090 LOC105378418
    esv3584784copy number variation19estd213human GRCh37.p13 chr3: 37,982,104-37,986,928 , GRCh38.p12 chr3: 37,940,613-37,945,437 , NCBI36 chr3: 37,957,108-37,961,932 CTDSPL
    esv3584698copy number variation10estd213human NCBI36 chr1: 72,541,524-72,583,736 , GRCh38.p12 chr1: 72,303,253-72,345,465 , GRCh37.p13 chr1: 72,768,936-72,811,148 , GRCh38.p12 chr1|NW_018654707.1: 15,520-66,690 LOC105378797
    esv3584792copy number variation1estd213human GRCh37.p13 chr3: 129,775,858-129,806,236 , GRCh38.p12 chr3: 130,057,015-130,087,393 , NCBI36 chr3: 131,258,548-131,288,926 ALG1L2, LINC02014
    esv3584622copy number variation4estd213human GRCh38.p12 chr10: 80,624,378-80,639,841 , NCBI36 chr10: 82,374,114-82,389,577 , GRCh37.p13 chr10: 82,384,134-82,399,597 SH2D4B, LOC105378387
    esv3584780copy number variation9estd213human NCBI36 chr22: 37,693,565-37,705,253 , GRCh38.p12 chr22: 38,967,614-38,979,302 , GRCh37.p13 chr22: 39,363,619-39,375,307 LOC105373033,
    esv3584516copy number variation1estd213human GRCh38.p12 chr4: 68,422,420-68,623,617 , GRCh37.p13 chr4: 69,288,138-69,489,335 , NCBI36 chr4: 68,970,733-69,171,930 UGT2B17, TMPRSS11E, 3 more genes
    esv3584733copy number variation4estd213human GRCh38.p12 chr19: 20,413,400-20,538,431 , GRCh37.p13 chr19: 20,596,206-20,721,237 , NCBI36 chr19: 20,388,046-20,513,077 , GRCh37.p13 chr19|NW_003571053.2: 330,653-455,684 ZNF826P, ZNF737, 4 more genes
    esv3584679copy number variation1estd213human NCBI36 chr15: 19,074,991-19,794,591 , GRCh38.p12 chr15: 20,609,671-22,005,276 , GRCh37.p13 chr15: 20,814,977-22,293,227 NBEAP1, IGHV1OR15-6, 61 more genes
    esv3584795copy number variation4estd213human GRCh37.p13 chr3: 162,512,657-162,623,897 , GRCh38.p12 chr3: 162,794,869-162,906,109 , NCBI36 chr3: 163,995,351-164,106,591 0
    esv3584757copy number variation30estd213human GRCh38.p12 chr2: 52,524,432-52,554,404 , NCBI36 chr2: 52,605,074-52,635,046 , GRCh37.p13 chr2: 52,751,570-52,781,542 0
    esv3584831copy number variation2estd213human NCBI36 chr5: 150,185,693-150,198,797 , GRCh37.p13 chr5: 150,205,500-150,218,604 , GRCh38.p12 chr5: 150,825,938-150,839,042 0
    esv3584657copy number variation10estd213human NCBI36 chr13: 36,970,036-36,982,757 , GRCh38.p12 chr13: 37,497,899-37,510,620 , GRCh37.p13 chr13: 38,072,036-38,084,757 0
    esv3584811copy number variation4estd213human GRCh38.p12 chr4: 114,254,167-114,261,019 , GRCh37.p13 chr4: 115,175,323-115,182,175 , NCBI36 chr4: 115,394,772-115,401,624 0
    esv3584947copy number variation2estd213human NCBI36 chr18: 63,110,187-63,118,245 , GRCh37.p13 chr18: 64,959,207-64,967,265 , GRCh38.p12 chr18: 67,291,970-67,300,028 0
    esv3584517copy number variation4estd213human GRCh38.p12 chr4: 77,355,402-77,360,189 , GRCh37.p13 chr4: 78,276,555-78,281,343 , NCBI36 chr4: 78,495,579-78,500,367 0
    esv3584504copy number variation10estd213human GRCh37.p13 chr3: 68,746,259-68,747,413 , GRCh38.p12 chr3: 68,697,108-68,698,262 , NCBI36 chr3: 68,828,949-68,830,103 0
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