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Items: 1 to 20 of 1214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3892184copy number variation18estd224human NCBI36 chr12: 36,248,035-36,718,276 , GRCh37.p13 chr12: 37,961,768-38,432,009 , GRCh38.p12 chr12: 37,567,966-38,038,207 ZNF970P
    esv3892800copy number variation4estd224human NCBI36 chr16: 16,519,474-16,737,037 , GRCh37.p13 chr16: 16,611,973-16,829,536 , GRCh38.p12 chr16: 16,518,116-16,735,679 , GRCh38.p12 chr16|NT_187607.1: 2,179,176-2,396,615 LOC100133127
    esv3891361copy number variation2estd224human NCBI36 chr8: 16,432,236-16,636,972 , GRCh37.p13 chr8: 16,387,865-16,592,601 , GRCh38.p12 chr8: 16,530,356-16,735,092 LOC101929028
    esv3891258copy number variation4estd224human NCBI36 chr8: 3,933,246-4,126,294 , GRCh37.p13 chr8: 3,945,838-4,138,886 , GRCh38.p12 chr8: 4,088,316-4,281,364 CSMD1
    esv3892805copy number variation3estd224human NCBI36 chr16: 18,519,949-18,699,648 , GRCh37.p13 chr16: 18,612,448-18,792,147 , GRCh38.p12 chr16: 18,601,126-18,780,825 RPS15A
    esv3891266copy number variation2estd224human NCBI36 chr8: 2,329,741-2,503,143 , GRCh37.p13 chr8|NW_003571042.1: 452,305-608,579 , GRCh37.p13 chr8: 2,342,334-2,498,608 , GRCh38.p12 chr8: 2,485,228-2,641,112 , GRCh38.p12 chr8|NT_187576.1: 652,904-809,178 LINC03021
    esv3891062copy number variation2estd224human NCBI36 chr7: 14,083,642-14,179,157 , GRCh37.p13 chr7: 14,117,117-14,212,632 , GRCh38.p12 chr7: 14,077,492-14,173,007 DGKB
    esv3890983copy number variation2estd224human NCBI36 chr6: 162,622,524-162,699,141 , GRCh37.p13 chr6: 162,702,534-162,779,151 , GRCh38.p12 chr6: 162,281,502-162,358,119 PRKN
    esv3892515copy number variation388estd224human NCBI36 chr14: 40,671,757-40,744,653 , GRCh37.p13 chr14: 41,602,007-41,674,903 , GRCh38.p12 chr14: 41,132,802-41,205,700 LINC02315
    esv3891950copy number variation5estd224human NCBI36 chr11: 24,203,480-24,247,394 , GRCh37.p13 chr11: 24,246,904-24,290,818 , GRCh38.p12 chr11: 24,225,358-24,269,272 LINC02686
    esv3891368copy number variation2estd224human NCBI36 chr8: 19,094,091-19,137,286 , GRCh37.p13 chr8: 19,049,811-19,093,006 , GRCh38.p12 chr8: 19,192,301-19,235,496 LOC100128993
    esv3893853copy number variation4estd224human NCBI36 chr3: 198,605,990-198,647,373 , GRCh37.p13 chr3: 197,121,593-197,162,976 , GRCh38.p12 chr3: 197,394,722-197,436,105 , GRCh38.p12 chr3|NT_187534.1: 124,180-162,429 LOC105374308
    esv3890830copy number variation268estd224human NCBI36 chr6: 32,560,011-32,593,470 , GRCh37.p13 chr6: 32,452,033-32,485,492 , GRCh38.p12 chr6: 32,484,256-32,517,715 HLA-DRB5
    esv3892279copy number variation34estd224human NCBI36 chr12: 130,363,561-130,396,285 , GRCh37.p13 chr12: 131,797,608-131,830,332 , GRCh38.p12 chr12: 131,313,063-131,345,787 LINC02370
    esv3892650copy number variation70estd224human NCBI36 chr15: 30,275,116-30,302,218 , GRCh37.p13 chr15: 32,487,824-32,514,926 , GRCh38.p12 chr15: 32,195,623-32,222,725 LOC102724078
    esv3893203copy number variation17estd224human NCBI36 chr19: 46,041,572-46,064,315 , GRCh37.p13 chr19: 41,349,732-41,372,475 , GRCh38.p12 chr19: 40,843,827-40,866,570 CYP2A6
    esv3890817copy number variation25estd224human NCBI36 chr6: 31,382,672-31,398,785 , GRCh37.p13 chr6|NT_167249.1: 2,608,445-2,624,528 , GRCh37.p13 chr6|NT_167246.1: 2,621,533-2,631,393 , GRCh37.p13 chr6: 31,274,693-31,290,806 , GRCh38.p12 chr6: 31,306,916-31,323,029 , GRCh38.p12 chr6|NT_167249.2: 2,609,147-2,625,230 , GRCh38.p12 chr6|NT_167246.2: 2,615,913-2,625,775 LOC112267902
    esv3891867copy number variation67estd224human NCBI36 chr10: 81,478,475-81,492,542 , GRCh37.p13 chr10: 81,488,285-81,502,360 , GRCh38.p12 chr10: 79,728,529-79,742,604 NUTM2B-AS1
    esv3891352copy number variation7estd224human NCBI36 chr8: 15,464,148-15,476,553 , GRCh37.p13 chr8: 15,419,777-15,432,182 , GRCh38.p12 chr8: 15,562,268-15,574,673 TUSC3
    esv3894185copy number variation4estd224human NCBI36 chr5: 45,423,611-46,414,714 , GRCh37.p13 chr5: 45,387,854-46,378,957 , GRCh38.p12 chr5: 45,387,752-46,378,855 HCN1
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