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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421925copy number variation12estd195human NCBI36 chr1: 187,592,960-187,810,199 , GRCh37.p13 chr1: 189,326,337-189,543,576 , GRCh38.p12 chr1: 189,357,207-189,574,446 LOC105371657
    esv2421639copy number variation303estd195human NCBI36 chr11: 54,725,242-54,793,048 , GRCh37.p13 chr11: 54,968,666-55,036,472 , GRCh38.p12 chr11: 55,201,190-55,268,996 TRIM48
    esv2421331copy number variation359estd195human NCBI36 chr4: 34,462,895-34,501,120 , GRCh37.p13 chr4|NW_003315915.1: 277,207-315,432 , GRCh37.p13 chr4: 34,786,500-34,824,725 , GRCh38.p12 chr4: 34,784,878-34,823,103 , GRCh38.p12 chr4|NW_003315915.1: 277,207-315,432 LOC105378262
    esv2421900copy number variation303estd195human NCBI36 chr16: 54,351,338-54,379,945 , GRCh37.p13 chr16: 55,793,837-55,822,444 , GRCh38.p12 chr16: 55,759,925-55,788,532 CES1P1
    esv2422044copy number variation756estd195human NCBI36 chr2: 97,507,179-97,531,181 , GRCh37.p13 chr2: 98,146,258-98,164,749 , GRCh38.p12 chr2: 97,524,284-97,548,286 ANKRD36B
    esv2421531copy number variation740estd195human NCBI36 chr10: 81,475,459-81,489,917 , GRCh37.p13 chr10: 81,485,267-81,499,734 , GRCh38.p12 chr10: 79,725,511-79,739,978 NUTM2B-AS1
    esv2421442copy number variation49estd195human NCBI36 chr4: 98,391,437-98,404,155 , GRCh37.p13 chr4: 98,172,414-98,185,132 , GRCh38.p12 chr4: 97,251,263-97,263,981 STPG2
    esv2422027copy number variation200estd195human NCBI36 chr4: 107,156,053-107,165,884 , GRCh37.p13 chr4: 106,936,604-106,946,435 , GRCh38.p12 chr4: 106,015,447-106,025,278 LOC101929577
    esv2421592copy number variation41estd195human NCBI36 chr18: 65,358,832-65,368,251 , GRCh37.p13 chr18: 67,207,852-67,217,271 , GRCh38.p12 chr18: 69,540,616-69,550,035 DOK6
    esv2422019copy number variation523estd195human NCBI36 chr8: 144,772,135-144,780,417 , GRCh37.p13 chr8: 144,700,992-144,709,274 , GRCh38.p12 chr8: 143,618,822-143,627,104 LOC105375798
    esv2421562complex substitution618estd195human NCBI36 chr19: 56,832,974-56,840,616 , GRCh37.p13 chr19: 52,141,162-52,148,804 , GRCh38.p12 chr19: 51,637,909-51,645,551 SIGLEC14
    esv2421396complex substitution618estd195human NCBI36 chr19: 56,832,974-56,840,616 , GRCh37.p13 chr19: 52,141,162-52,148,804 , GRCh38.p12 chr19: 51,637,909-51,645,551 SIGLEC14
    esv2422040copy number variation1014estd195human NCBI36 chr3: 194,358,067-194,365,597 , GRCh37.p13 chr3: 192,875,373-192,882,903 , GRCh38.p12 chr3: 193,157,584-193,165,114 VEZF1P1
    esv2421653copy number variation48estd195human NCBI36 chr15: 45,994,758-46,001,995 , GRCh37.p13 chr15: 48,207,466-48,214,703 , GRCh38.p12 chr15: 47,915,269-47,922,506 LOC105370805
    esv2422037copy number variation115estd195human NCBI36 chr3: 37,954,886-37,961,932 , GRCh37.p13 chr3: 37,979,882-37,986,928 , GRCh38.p12 chr3: 37,938,391-37,945,437 CTDSPL
    esv2421800copy number variation199estd195human NCBI36 chr7: 247,723-253,709 , GRCh37.p13 chr7: 152,640-158,626 , GRCh38.p12 chr7: 152,640-158,626 , GRCh38.p12 chr7|NT_187558.1: 108,445-114,432 , GRCh38.p12 chr7|NT_187653.1: 144,961-150,947 LINC03014
    esv2422091copy number variation278estd195human NCBI36 chr1: 34,875,241-34,880,863 , GRCh37.p13 chr1: 35,102,654-35,108,276 , GRCh38.p12 chr1: 34,637,053-34,642,675 LOC105378641
    esv2422167copy number variation370estd195human NCBI36 chr12: 69,158,942-69,164,294 , GRCh37.p13 chr12: 70,872,675-70,878,027 , GRCh38.p12 chr12: 70,478,895-70,484,247
    esv2422088copy number variation16estd195human NCBI36 chr7: 110,824,661-110,829,591 , GRCh37.p13 chr7: 111,037,425-111,042,355 , GRCh38.p12 chr7: 111,397,369-111,402,299 IMMP2L
    esv2421563copy number variation482estd195human NCBI36 chr3: 133,190,847-133,195,707 , GRCh37.p13 chr3: 131,708,157-131,713,017 , GRCh38.p12 chr3: 131,989,313-131,994,173 CPNE4
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