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    Number of Variants: 1

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2670613copy number variation146estd199human GRCh37 chr1: 911,645-915,192 , GRCh38.p12 chr1: 976,265-979,812 PLEKHN1, PERM1

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