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Items: 1 to 20 of 282411

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv1995006copy number variation1estd194human NCBI36 chr1: 2,577,543-2,599,245 , GRCh37.p13 chr1: 2,587,683-2,609,385 , GRCh38.p12 chr1: 2,656,244-2,677,946 , GRCh38.p12 chr1|NT_187515.1: 219,010-238,521 TTC34
    esv2244500copy number variation1estd194human NCBI36 chr3: 181,869,489-181,889,386 , GRCh37.p13 chr3: 180,386,795-180,406,692 , GRCh38.p12 chr3: 180,669,007-180,688,904 CCDC39
    esv2322180copy number variation1estd194human NCBI36 chr6: 28,872,654-28,888,557 , GRCh37.p13 chr6|NT_167247.1: 68,076-83,979 , GRCh37.p13 chr6|NT_167244.1: 68,076-83,979 , GRCh37.p13 chr6: 28,764,675-28,780,578 , GRCh37.p13 chr6|NT_167245.1: 68,072-83,988 , GRCh37.p13 chr6|NT_167248.1: 68,076-83,979 , GRCh38.p12 chr6|NT_167247.2: 62,491-78,394 , GRCh38.p12 chr6|NT_167245.2: 62,487-78,403 , GRCh38.p12 chr6|NT_167244.2: 62,477-78,380 , GRCh38.p12 chr6: 28,796,898-28,812,801 , GRCh38.p12 chr6|NT_167246.2: 62,467-78,368 TRF-GAA3-1
    esv2295153copy number variation1estd194human NCBI36 chrX: 55,189,366-55,204,332 , GRCh37.p13 chrX: 55,172,641-55,187,607 , GRCh38.p12 chrX: 55,146,208-55,161,174 VCF2
    esv2076042copy number variation1estd194human NCBI36 chr16: 76,928,949-76,942,596 , GRCh37.p13 chr16: 78,371,448-78,385,095 , GRCh38.p12 chr16: 78,337,551-78,351,198 WWOX
    esv2263886copy number variation1estd194human NCBI36 chrX: 55,189,274-55,202,368 , GRCh37.p13 chrX: 55,172,549-55,185,643 , GRCh38.p12 chrX: 55,146,116-55,159,210 VCF2
    esv2409223copy number variation1estd194human NCBI36 chrX: 55,189,322-55,202,391 , GRCh37.p13 chrX: 55,172,597-55,185,666 , GRCh38.p12 chrX: 55,146,164-55,159,233 VCF2
    esv2349622copy number variation1estd194human NCBI36 chr4: 33,851,281-33,863,497 , GRCh37.p13 chr4: 34,174,886-34,187,102 , GRCh38.p12 chr4: 34,173,264-34,185,480 LINC02484
    esv2232855copy number variation1estd194human NCBI36 chr7: 10,523,105-10,534,413 , GRCh37.p13 chr7: 10,556,580-10,567,888 , GRCh38.p12 chr7: 10,516,953-10,528,261 MGC4859
    esv2314060copy number variation1estd194human NCBI36 chr7: 48,362,088-48,372,605 , GRCh37.p13 chr7: 48,391,542-48,402,059 , GRCh38.p12 chr7: 48,351,945-48,362,462 ABCA13
    esv2415465copy number variation1estd194human NCBI36 chr3: 194,357,858-194,368,292 , GRCh37.p13 chr3: 192,875,164-192,885,598 , GRCh38.p12 chr3: 193,157,375-193,167,809 VEZF1P1
    esv2159853copy number variation1estd194human NCBI36 chr8: 63,377,769-63,387,944 , GRCh37.p13 chr8: 63,215,215-63,225,390 , GRCh38.p12 chr8: 62,302,656-62,312,831 NKAIN3
    esv2388810copy number variation1estd194human NCBI36 chr20: 15,258,762-15,268,773 , GRCh37.p13 chr20: 15,310,762-15,320,773 , GRCh38.p12 chr20: 15,330,116-15,340,127 MACROD2
    esv2161601copy number variation1estd194human NCBI36 chr6: 136,642,626-136,652,627 , GRCh37.p13 chr6: 136,600,933-136,610,934 , GRCh38.p12 chr6: 136,279,795-136,289,796 BCLAF1
    esv2298302copy number variation1estd194human NCBI36 chr6: 72,920,417-72,930,379 , GRCh37.p13 chr6: 72,863,696-72,873,658 , GRCh38.p12 chr6: 72,153,993-72,163,955 RIMS1
    esv2248028copy number variation1estd194human NCBI36 chr1: 144,071,380-144,077,886 , GRCh37.p13 chr1|NW_003871055.3: 2,883,886-2,890,070 , GRCh37.p13 chr1: 145,360,023-145,366,529 , GRCh38.p12 chr1: 146,068,473-146,078,171 NBPF10
    esv2280101copy number variation1estd194human NCBI36 chr10: 81,783,560-81,793,062 , GRCh37.p13 chr10: 81,793,580-81,803,082 , GRCh38.p12 chr10: 80,033,824-80,043,326 C1DP4
    esv1927955copy number variation1estd194human NCBI36 chr5: 19,258,640-19,268,043 , GRCh37.p13 chr5: 19,222,883-19,232,286 , GRCh38.p12 chr5: 19,222,774-19,232,177 HSPD1P15
    esv2285591copy number variation1estd194human NCBI36 chr4: 173,661,454-173,670,286 , GRCh37.p13 chr4: 173,424,879-173,433,711 , GRCh38.p12 chr4: 172,503,728-172,512,560 GALNTL6
    esv1947625copy number variation1estd194human NCBI36 chr4: 20,978,013-20,986,176 , GRCh37.p13 chr4: 21,368,915-21,377,078 , GRCh38.p12 chr4: 21,367,292-21,375,455 KCNIP4
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