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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2763978copy number variation49estd203human NCBI36 chr6: 66,427,073-66,483,364 , GRCh37.p13 chr6: 66,370,352-66,426,643 , GRCh38.p12 chr6: 65,660,459-65,716,750 EYS
    esv2763832copy number variation300estd203human NCBI36 chr4: 9,802,525-9,848,395 , GRCh37.p13 chr4: 10,193,427-10,239,297 , GRCh38.p12 chr4: 10,191,803-10,237,673 LOC100129344
    esv2761311copy number variation71estd203human NCBI36 chr13: 36,968,370-37,013,110 , GRCh37.p13 chr13: 38,070,370-38,115,110 , GRCh38.p12 chr13: 37,496,233-37,540,973 LINC00547
    esv2763954copy number variation3estd203human NCBI36 chr6: 62,501,710-62,527,570 , GRCh37.p13 chr6: 62,443,751-62,469,611 , GRCh38.p12 chr6: 61,733,846-61,759,706 KHDRBS2
    esv2763680copy number variation9estd203human NCBI36 chr1: 213,922,506-213,937,306 , GRCh37.p13 chr1: 215,855,883-215,870,683 , GRCh38.p12 chr1: 215,682,541-215,697,341 USH2A
    esv2761756copy number variation1estd203human NCBI36 chr12: 82,941,829-82,952,740 , GRCh37.p13 chr12: 84,417,698-84,428,609 , GRCh38.p12 chr12: 84,023,919-84,034,830 LOC107984536
    esv2764257copy number variation21estd203human NCBI36 chr10: 13,096,269-13,104,413 , GRCh37.p13 chr10: 13,056,263-13,064,407 , GRCh38.p12 chr10: 13,014,263-13,022,407 CCDC3
    esv2761176copy number variation44estd203human NCBI36 chr13: 31,429,924-31,438,047 , GRCh37.p13 chr13: 32,531,924-32,540,047 , GRCh38.p12 chr13: 31,957,787-31,965,910 EEF1DP3
    esv2760477copy number variation14estd203human NCBI36 chr11: 106,743,866-106,744,338 , GRCh37.p13 chr11: 107,238,656-107,239,128 , GRCh38.p12 chr11: 107,367,930-107,368,402 CWF19L2
    esv2760411copy number variation9estd203human NCBI36 chr11: 107,152,142-107,177,255 , GRCh37.p13 chr11: 107,646,932-107,672,045 , GRCh38.p12 chr11: 107,776,206-107,801,319 SLC35F2
    esv2764074copy number variation121estd203human NCBI36 chr8: 39,344,897-39,523,161 , GRCh37.p13 chr8: 39,225,740-39,404,004 , GRCh38.p12 chr8: 39,368,221-39,546,485 ADAM3A, ADAM5
    esv2762743copy number variation368estd203human NCBI36 chr1: 72,522,436-72,595,424 , GRCh37.p13 chr1: 72,749,848-72,822,836 , GRCh38.p12 chr1: 72,284,165-72,357,153 , GRCh38.p12 chr1|NW_018654707.1: 1-78,378 RPL31P12, LOC105378797
    esv2760788copy number variation68estd203human NCBI36 chr12: 2,102,418-2,140,552 , GRCh37.p13 chr12: 2,232,157-2,270,291 , GRCh38.p12 chr12: 2,122,991-2,161,125 , GRCh38.p12 chr12|NW_018654718.1: 465,135-503,269 CACNA1C, LOC107984131
    esv2764137copy number variation32estd203human NCBI36 chr9: 11,714,529-12,316,564 , GRCh37.p13 chr9: 11,724,529-12,326,564 , GRCh38.p12 chr9: 11,724,529-12,326,564 JKAMPP1, LOC101929446, 2 more genes
    esv2763928copy number variation116estd203human NCBI36 chr5: 12,853,889-12,945,132 , GRCh37.p13 chr5: 12,800,889-12,892,132 , GRCh38.p12 chr5: 12,800,777-12,892,020 LINC01194, LOC105374657, 1 more genes
    esv2762965copy number variation224estd203human NCBI36 chr1: 150,793,267-150,853,218 , GRCh37.p13 chr1: 152,526,643-152,586,594 , GRCh38.p12 chr1: 152,554,167-152,614,118 LCE3D, LCE3B, 2 more genes
    esv2760333copy number variation106estd203human NCBI36 chr11: 5,734,586-5,768,936 , GRCh37.p13 chr11: 5,778,010-5,812,360 , GRCh38.p12 chr11: 5,756,780-5,791,130 OR52N1, OR56B2P, 1 more genes
    esv2763964copy number variation66estd203human GRCh38.p12 chr6: 257,353-382,897 , NCBI36 chr6: 202,353-327,897 , GRCh37.p13 chr6: 257,353-382,897 DUSP22, , 1 more genes
    esv2762032copy number variation80estd203human NCBI36 chr16: 54,341,931-54,420,213 , GRCh38.p12 chr16: 55,750,518-55,828,800 , GRCh37.p13 chr16: 55,784,430-55,862,712 CES1, CES1P1, 1 more genes
    esv2760555copy number variation7estd203human NCBI36 chr11: 133,657,240-134,235,880 , GRCh37.p13 chr11: 134,152,030-134,730,670 , GRCh38.p12 chr11: 134,282,136-134,860,776 B3GAT1, GLB1L2, 6 more genes
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