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Items: 1 to 20 of 998

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3817816copy number variation763estd214human GRCh37 chrX: 131,913,437-131,914,617 , GRCh38.p12 chrX: 132,779,409-132,780,589 HS6ST2
    esv3817218delins1586estd214human GRCh37 chrX: 1,018,298-1,018,298 , GRCh38.p12 chrX: 1,057,563-1,057,563 0
    esv3817315delins622estd214human GRCh37 chrX: 27,476,602-27,476,602 , GRCh38.p12 chrX: 27,458,485-27,458,485 PPP4R3C
    esv3817435mobile element insertion130estd214human GRCh37 chrX: 111,229,571-111,229,571 , GRCh38.p12 chrX: 111,986,343-111,986,343 TRPC5
    esv3817754mobile element insertion601estd214human GRCh37 chrX: 14,152,015-14,152,015 , GRCh38.p12 chrX: 14,133,896-14,133,896 0
    esv3817938copy number variation129estd214human GRCh37 chrY: 25,505,143-26,270,733 , GRCh38.p12 chrY: 23,358,996-24,124,586 OFD1P10Y, CDY14P, 33 more genes
    esv3817884copy number variation1789estd214human GRCh37 chrX: 131,089,382-131,089,611 , GRCh38.p12 chrX: 131,955,354-131,955,583 0
    esv3817660copy number variation618estd214human GRCh37 chrX: 45,423,235-45,423,983 , GRCh38.p12 chrX: 45,563,990-45,564,738 0
    esv3817679copy number variation1848estd214human GRCh37 chrX: 147,509,695-147,511,237 , GRCh38.p12 chrX: 148,428,176-148,429,718 0
    esv3817610mobile element insertion1552estd214human GRCh37 chrX: 126,290,693-126,290,693 , GRCh38.p12 chrX: 127,156,710-127,156,710 0
    esv3817887mobile element insertion275estd214human GRCh37 chrX: 95,537,355-95,537,355 , GRCh38.p12 chrX: 96,282,356-96,282,356 0
    esv3817413delins1094estd214human GRCh37 chrX: 319,122-319,122 , GRCh38.p12 chrX: 358,387-358,387 , GRCh38.p12 chrX|NT_187667.1: 30,880-30,880 , GRCh38.p12 chrX|NT_187634.1: 41,740-41,740 PPP2R3B
    esv3817154copy number variation887estd214human GRCh37 chrX: 32,886,342-32,886,931 , GRCh38.p12 chrX: 32,868,225-32,868,814 DMD
    esv3817925copy number variation133estd214human GRCh37 chrY: 26,274,679-26,950,594 , GRCh38.p12 chrY: 24,128,532-24,804,447 TTTY17B, GOLGA6L12P, 25 more genes
    esv3817825copy number variation514estd214human GRCh37 chrX: 110,094,444-110,095,367 , GRCh38.p12 chrX: 110,851,216-110,852,139 0
    esv3816979mobile element insertion201estd214human GRCh37 chrX: 31,470,360-31,470,360 , GRCh38.p12 chrX: 31,452,243-31,452,243 DMD
    esv3817070copy number variation1108estd214human GRCh37 chrX: 22,377,617-22,378,107 , GRCh38.p12 chrX: 22,359,500-22,359,990 PTCHD1-AS
    esv3816956copy number variation1245estd214human GRCh37 chrX: 97,167,898-97,168,316 , GRCh38.p12 chrX: 97,912,900-97,913,318 0
    esv3817466copy number variation745estd214human GRCh37 chrX: 105,938,828-105,939,512 , GRCh38.p12 chrX: 106,695,598-106,696,282 RNF128
    esv3816975mobile element insertion122estd214human GRCh37 chrX: 125,960,623-125,960,623 , GRCh38.p12 chrX: 126,826,640-126,826,640 0
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