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Items: 1 to 20 of 44056

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3337622copy number variation1estd59human NCBI36 chr17: 49,638,658-50,016,799 , GRCh37.p13 chr17: 52,283,659-52,661,800 , GRCh38.p12 chr17: 54,206,298-54,584,439 ISCA1P3
    esv3336764copy number variation1estd59human NCBI36 chr12: 59,559,836-59,937,737 , GRCh37.p13 chr12: 61,273,569-61,651,470 , GRCh38.p12 chr12: 60,879,788-61,257,689 PGBD3P1
    esv3357831copy number variation1estd59human NCBI36 chr3: 145,916,536-146,273,521 , GRCh37.p13 chr3: 144,433,846-144,790,831 , GRCh38.p12 chr3: 144,715,004-145,071,987 LOC105374141
    esv3379090copy number variation2estd59human NCBI36 chr18: 21,380,019-21,721,680 , GRCh37.p13 chr18: 23,126,021-23,467,682 , GRCh38.p12 chr18: 25,546,057-25,887,718 RN7SL97P
    esv3394819copy number variation2estd59human NCBI36 chrY: 667,744-963,405 , GRCh37.p13 chrY: 697,744-993,405 , GRCh38.p12 chrY: 787,009-1,082,670 RPL14P5
    esv3353933copy number variation1estd59human NCBI36 chr4: 155,102,842-155,361,530 , GRCh37.p13 chr4: 154,883,392-155,142,080 , GRCh38.p12 chr4: 153,962,240-154,220,928 , GRCh38.p12 chr4|NW_017363814.1: 1-148,557 LOC101927947
    esv3451709copy number variation1estd59human NCBI36 chrX: 83,434,264-83,691,463 , GRCh37.p13 chrX: 83,547,608-83,804,807 , GRCh38.p12 chrX: 84,292,600-84,549,799 HDX
    esv3331559copy number variation1estd59human NCBI36 chr5: 119,334,843-119,564,453 , GRCh37.p13 chr5: 119,306,944-119,536,554 , GRCh38.p12 chr5: 119,971,249-120,200,859 LOC105379144
    esv3447152copy number variation1estd59human NCBI36 chr6: 66,084,659-66,309,902 , GRCh37.p13 chr6: 66,027,938-66,253,181 , GRCh38.p12 chr6: 65,318,045-65,543,288 EYS
    esv3392967copy number variation1estd59human NCBI36 chr1: 211,338,467-211,556,755 , GRCh37.p13 chr1: 213,271,844-213,490,132 , GRCh38.p12 chr1: 213,098,502-213,316,789 RPS6KC1
    esv3369022copy number variation1estd59human NCBI36 chr1: 80,776,754-80,966,992 , GRCh37.p13 chr1: 81,004,166-81,194,404 , GRCh38.p12 chr1: 80,538,481-80,728,719 LINC01781
    esv3415691copy number variation1estd59human NCBI36 chr4: 49,023,076-49,207,714 , GRCh37.p13 chr4: 49,328,319-49,512,957 , GRCh38.p12 chr4: 49,326,302-49,510,940 ANKRD20A17P
    esv3414581copy number variation1estd59human NCBI36 chr3: 76,308,502-76,482,400 , GRCh37.p13 chr3: 76,225,812-76,399,710 , GRCh38.p12 chr3: 76,176,661-76,350,559 ROBO2
    esv3359459copy number variation1estd59human NCBI36 chr12: 130,446,471-130,590,180 , GRCh37.p13 chr12: 131,880,518-132,024,227 , GRCh38.p12 chr12: 131,395,973-131,539,682 LOC101929974
    esv3376841copy number variation2estd59human NCBI36 chr1: 59,573,327-59,714,667 , GRCh37.p13 chr1: 59,800,739-59,942,079 , GRCh38.p12 chr1: 59,335,067-59,476,407 FGGY
    esv3364491copy number variation1estd59human NCBI36 chr14: 40,678,669-40,810,666 , GRCh37.p13 chr14: 41,608,919-41,740,916 , GRCh38.p12 chr14: 41,139,716-41,271,713 LINC02315
    esv3431317copy number variation2estd59human NCBI36 chr11: 68,039,252-68,168,443 , GRCh37.p13 chr11: 68,282,676-68,411,867 , GRCh38.p12 chr11: 68,515,208-68,644,399 PPP6R3
    esv3511614copy number variation2estd59human NCBI36 chr11: 68,039,302-68,168,382 , GRCh37.p13 chr11: 68,282,726-68,411,806 , GRCh38.p12 chr11: 68,515,258-68,644,338 PPP6R3
    esv3478641copy number variation18estd59human NCBI36 chr11: 68,039,255-68,168,432 , GRCh37.p13 chr11: 68,282,679-68,411,856 , GRCh38.p12 chr11: 68,515,211-68,644,388 PPP6R3
    esv3426755copy number variation2estd59human NCBI36 chr1: 211,781,066-211,908,137 , GRCh37.p13 chr1: 213,714,443-213,841,514 , GRCh38.p12 chr1: 213,541,100-213,668,171
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