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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
    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
    esv3817195copy number variation1683estd214human GRCh37 chrX: 910,112-910,847 , GRCh38.p12 chrX: 949,377-950,112 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
    esv3817665copy number variation259estd214human GRCh37 chrX: 1,437,891-1,438,937 , GRCh38.p12 chrX: 1,318,998-1,320,044 CSF2RA
    esv3817752copy number variation714estd214human GRCh37 chrX: 53,819,537-53,820,304 , GRCh38.p12 chrX: 53,793,039-53,793,806
    esv3817652copy number variation5estd214human GRCh37 chrX: 75,801,323-75,801,323 , GRCh38.p12 chrX: 76,580,931-76,580,931 0
    esv3817070copy number variation1108estd214human GRCh37 chrX: 22,377,617-22,378,107 , GRCh38.p12 chrX: 22,359,500-22,359,990 PTCHD1-AS
    esv3817830copy number variation962estd214human GRCh37 chrX: 33,712,708-33,713,545 , GRCh38.p12 chrX: 33,694,591-33,695,428 0
    esv3817511delins84estd214human GRCh37 chrX: 135,115,763-135,115,763 , GRCh38.p12 chrX: 136,033,604-136,033,604 SLC9A6
    esv3816956copy number variation1245estd214human GRCh37 chrX: 97,167,898-97,168,316 , GRCh38.p12 chrX: 97,912,900-97,913,318 0
    esv3817075copy number variation25estd214human GRCh37 chrX: 6,032,449-6,035,568 , GRCh38.p12 chrX: 6,114,408-6,117,527 NLGN4X
    esv3817466copy number variation745estd214human GRCh37 chrX: 105,938,828-105,939,512 , GRCh38.p12 chrX: 106,695,598-106,696,282 RNF128
    esv3817694copy number variation502estd214human GRCh37 chrX: 24,184,245-24,185,065 , GRCh38.p12 chrX: 24,166,128-24,166,948 ZFX
    esv3817250copy number variation1086estd214human GRCh37 chrX: 80,572,069-80,573,144 , GRCh38.p12 chrX: 81,316,570-81,317,645 0
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