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Items: 1 to 20 of 135

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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
    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
    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
    esv2421874copy number variation16estd195human NCBI36 chr3: 166,524,242-166,564,633 , GRCh37.p13 chr3: 165,041,548-165,081,939 , GRCh38.p12 chr3: 165,323,760-165,364,151 LINC01322
    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
    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
    esv2422030copy number variation614estd195human NCBI36 chr2: 179,775,437-179,787,389 , GRCh37.p13 chr2: 180,067,192-180,079,144 , GRCh38.p12 chr2: 179,202,465-179,214,417 SESTD1
    esv2422012copy number variation561estd195human NCBI36 chr13: 71,375,556-71,387,378 , GRCh37.p13 chr13: 72,477,555-72,489,377 , GRCh38.p12 chr13: 71,903,417-71,915,239 RPS10P21
    esv2421811copy number variation196estd195human NCBI36 chr1: 111,178,889-111,189,749 , GRCh37.p13 chr1: 111,377,366-111,388,226 , GRCh38.p12 chr1: 110,834,744-110,845,604 NRBF2P3
    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
    esv2421570copy number variation79estd195human NCBI36 chr7: 115,722,247-115,728,902 , GRCh37.p13 chr7: 115,935,011-115,941,666 , GRCh38.p12 chr7: 116,294,957-116,301,612 LOC105375463
    esv2421549copy number variation235estd195human NCBI36 chr6: 19,150,160-19,156,771 , GRCh37.p13 chr6: 19,042,181-19,048,792 , GRCh38.p12 chr6: 19,041,950-19,048,561 LOC105374958
    esv2421827copy number variation19estd195human NCBI36 chr7: 12,988,634-12,994,810 , GRCh37.p13 chr7: 13,022,109-13,028,285 , GRCh38.p12 chr7: 12,982,484-12,988,660 LOC105375158
    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
    esv2421911copy number variation770estd195human NCBI36 chr4: 173,224,311-173,229,756 , GRCh37.p13 chr4: 172,987,736-172,993,181 , GRCh38.p12 chr4: 172,066,585-172,072,030 GALNTL6
    esv2422087copy number variation1023estd195human NCBI36 chr5: 177,160,157-177,165,211 , GRCh37.p13 chr5: 177,227,551-177,232,605 , GRCh38.p12 chr5: 177,800,550-177,805,604 LOC105377752
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