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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv29990copy number variation1estd22human NCBI36 chr7: 134,663,671-134,707,686 , GRCh37.p13 chr7: 135,013,131-135,057,146 , GRCh38.p12 chr7: 135,328,379-135,372,394 CNOT4
    esv29991copy number variation1estd22human NCBI36 chr5: 180,350,918-180,362,542 , GRCh37.p13 chr5: 180,418,312-180,429,936 , GRCh38.p12 chr5: 180,991,312-181,002,936 BTNL3
    esv29969copy number variation1estd22human NCBI36 chr20: 14,729,684-14,888,687 , GRCh37.p13 chr20: 14,781,684-14,940,687 , GRCh38.p12 chr20: 14,801,038-14,960,041 MACROD2, MACROD2-AS1
    esv29982copy number variation1estd22human NCBI36 chr1: 153,084,977-153,149,168 , GRCh37.p13 chr1: 154,818,353-154,882,544 , GRCh38.p12 chr1: 154,845,877-154,910,068 KCNN3, LOC105371449
    esv29965copy number variation1estd22human NCBI36 chrX: 118,921,319-118,937,062 , GRCh37.p13 chrX: 119,037,291-119,053,034 , GRCh38.p12 chrX: 119,903,328-119,919,071 NKAP, AKAP14
    esv29995copy number variation1estd22human NCBI36 chr6: 32,718,791-32,732,964 , GRCh37.p13 chr6: 32,610,813-32,624,986 , GRCh38.p12 chr6: 32,643,036-32,657,209 HLA-DQA1,
    esv29994copy number variation1estd22human NCBI36 chrX: 2,542,769-2,704,239 , GRCh37.p13 chrX: 2,532,769-2,694,239 , GRCh38.p12 chrX: 2,614,728-2,776,198 CD99, XG, 2 more genes
    esv30002copy number variation1estd22human NCBI36 chr4: 69,057,535-69,166,014 , GRCh37.p13 chr4: 69,374,940-69,483,419 , GRCh38.p12 chr4: 68,509,222-68,617,701 UGT2B17, UGT2B29P, 2 more genes
    esv29983copy number variation1estd22human NCBI36 chr3: 150,633,992-150,684,992 , GRCh37.p13 chr3: 149,151,302-149,202,302 , GRCh38.p12 chr3: 149,433,515-149,484,515 FKBP1AP4, TM4SF4, 1 more genes
    esv29997copy number variation1estd22human NCBI36 chr1: 25,488,723-25,521,045 , GRCh37.p13 chr1: 25,616,136-25,648,458 , GRCh38.p12 chr1: 25,289,645-25,321,967 RHD, SDHDP6, 1 more genes
    esv30006copy number variation1estd22human NCBI36 chr14: 73,091,818-73,114,328 , GRCh37.p13 chr14: 74,022,065-74,044,575 , GRCh38.p12 chr14: 73,555,361-73,577,871 ACOT2, NT5CP1, 1 more genes
    esv29976copy number variation1estd22human NCBI36 chr21: 9,887,804-10,189,119 , GRCh37.p13 chr21: 10,865,933-11,167,248 , GRCh38.p12 chr21: 10,345,209-10,646,524 , GRCh38.p12 chr13|NW_011332699.1: 7,992-169,908 TPTE, BAGE5, 4 more genes
    esv29967copy number variation1estd22human NCBI36 chr12: 50,965,167-51,071,800 , GRCh37.p13 chr12: 52,678,900-52,785,533 , GRCh38.p12 chr12: 52,285,116-52,391,749 KRT81, KRT83, 4 more genes
    esv29968copy number variation1estd22human NCBI36 chr6: 31,467,627-31,565,557 , GRCh37.p13 chr6|NT_167249.1: 2,693,435-2,755,239 , GRCh37.p13 chr6: 31,359,648-31,457,578 , GRCh38.p12 chr6: 31,391,871-31,489,801 , GRCh38.p12 chr6|NT_167249.2: 2,694,137-2,755,941 HCP5, HLA-X, 5 more genes
    esv29978copy number variation1estd22human NCBI36 chr22: 22,677,759-22,725,505 , GRCh37.p13 chr22: 24,347,759-24,395,505 , GRCh38.p12 chr22|NT_187633.1: 241,934-289,680 GSTT1, GSTT4, 6 more genes
    esv29981copy number variation1estd22human NCBI36 chr14: 105,042,939-105,839,639 , GRCh37.p13 chr14|NW_004166863.1: 449,535-1,399,229 , GRCh37.p13 chr14: 106,252,705-106,768,594 , GRCh38.p12 chr14: 105,505,557-106,312,333 , GRCh38.p12 chr14|NT_187600.1: 1-1,214,078 ELK2AP, IGH, 190 more genes
    esv29972copy number variation1estd22human NCBI36 chrX: 153,662,541-154,582,606 , GRCh37.p13 chrX|NW_003871103.3: 2,215,051-3,110,903 , GRCh37.p13 chrX: 154,418,093-154,929,412 , GRCh38.p12 chrX: 154,781,072-155,699,751 CLIC2, F8, 27 more genes
    esv29992copy number variation1estd22human NCBI36 chr22: 20,783,684-21,598,390 , GRCh37.p13 chr22: 22,453,684-23,268,390 , GRCh38.p12 chr22: 22,099,274-22,926,217 BCRP4, IGL, 110 more genes
    esv29977copy number variation1estd22human NCBI36 chr5: 140,203,240-140,216,724 , GRCh37.p13 chr5|NW_004775428.1: 78,647-92,131 , GRCh37.p13 chr5: 140,223,056-140,236,540 , GRCh38.p12 chr5: 140,843,471-140,856,955 PCDHA9, PCDHA@, 9 more genes
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