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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
    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
    esv3817633copy number variation942estd214human GRCh37 chrX: 153,733,758-153,734,289 , GRCh38.p12 chrX: 154,505,427-154,505,958 FAM3A
    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
    esv3817191copy number variation775estd214human GRCh37 chrX: 153,634,830-153,636,529 , GRCh38.p12 chrX: 154,406,489-154,408,193 DNASE1L1
    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
    esv3816943mobile element insertion984estd214human GRCh37 chrX: 55,585,160-55,585,160 , GRCh38.p12 chrX: 55,558,727-55,558,727 0
    esv3817710copy number variation1286estd214human GRCh37 chrX: 78,921,957-78,926,007 , GRCh38.p12 chrX: 79,666,460-79,670,510 0
    esv3817755copy number variation13estd214human GRCh37 chrX: 154,762,286-154,778,240 , GRCh38.p12 chrX: 155,532,625-155,548,579 TMLHE
    esv3817158copy number variation1708estd214human GRCh37 chrX: 69,302,587-69,303,799 , GRCh38.p12 chrX: 70,082,737-70,083,949 0
    esv3817274copy number variation1608estd214human GRCh37 chrX: 40,461,270-40,461,776 , GRCh38.p12 chrX: 40,602,018-40,602,524 ATP6AP2
    esv3817800copy number variation625estd214human GRCh37 chrX: 70,137,259-70,139,986 , GRCh38.p12 chrX: 70,917,409-70,920,136 0
    esv3817866mobile element insertion545estd214human GRCh37 chrX: 31,275,320-31,275,320 , GRCh38.p12 chrX: 31,257,203-31,257,203 DMD
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