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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421976copy number variation508estd195human NCBI36 chr9: 44,667,855-44,777,523 , GRCh37.p13 chr9: 44,727,859-44,837,527 , GRCh38.p12 chr9: 61,520,021-61,629,689 LOC105379437
    esv2421607copy number variation228estd195human NCBI36 chr14: 40,679,974-40,738,084 , GRCh37.p13 chr14: 41,610,224-41,668,334 , GRCh38.p12 chr14: 41,141,021-41,199,131 LINC02315
    esv2422035copy number variation565estd195human NCBI36 chr7: 66,259,399-66,314,065 , GRCh37.p13 chr7: 66,621,964-66,676,630 , GRCh38.p12 chr7: 67,156,977-67,211,643 TYW1
    esv2421330copy number variation43estd195human NCBI36 chr14: 43,570,867-43,600,472 , GRCh37.p13 chr14: 44,501,117-44,530,722 , GRCh38.p12 chr14: 44,031,914-44,061,519 LINC02307
    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
    esv2421810copy number variation13estd195human NCBI36 chr4: 17,153,430-17,177,254 , GRCh37.p13 chr4: 17,544,332-17,568,156 , GRCh38.p12 chr4: 17,542,709-17,566,533 NACAP5
    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
    esv2422017copy number variation96estd195human NCBI36 chr17: 14,984,651-14,998,961 , GRCh37.p13 chr17: 15,043,926-15,058,236 , GRCh38.p12 chr17: 15,140,609-15,154,919 LOC107984976
    esv2421709copy number variation526estd195human NCBI36 chr7: 133,435,717-133,449,737 , GRCh37.p13 chr7: 133,785,177-133,799,197 , GRCh38.p12 chr7: 134,100,424-134,114,444
    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
    esv2421449copy number variation100estd195human NCBI36 chr3: 53,003,023-53,014,529 , GRCh37.p13 chr3: 53,027,983-53,039,489 , GRCh38.p12 chr3: 52,993,967-53,005,473 SFMBT1
    esv2421339copy number variation124estd195human NCBI36 chr12: 126,141,646-126,151,541 , GRCh37.p13 chr12: 127,575,693-127,585,588 , GRCh38.p12 chr12: 127,091,148-127,101,043 , GRCh38.p12 chr12|NW_019805499.1: 37,672-47,567 LOC107984449
    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
    esv2421958copy number variation93estd195human NCBI36 chr7: 90,869,441-90,878,663 , GRCh37.p13 chr7: 91,031,505-91,040,727 , GRCh38.p12 chr7: 91,402,190-91,411,412 LINC02932
    esv2421907copy number variation49estd195human NCBI36 chr1: 211,068,711-211,077,059 , GRCh37.p13 chr1: 213,002,088-213,010,436 , GRCh38.p12 chr1: 212,828,746-212,837,094 SPATA45
    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
    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
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