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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    esv2422018copy number variation269estd195human NCBI36 chr11: 7,769,616-7,788,834 , GRCh37.p13 chr11: 7,813,040-7,832,258 , GRCh38.p12 chr11: 7,791,493-7,810,711 , GRCh38.p12 chr11|NT_187583.1: 12,361-31,579 , GRCh38.p12 chr11|NW_011332695.1: 12,361-31,581 OR5P2
    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
    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
    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
    esv2421670copy number variation191estd195human NCBI36 chr11: 5,832,443-5,839,893 , GRCh37.p13 chr11: 5,875,867-5,883,317 , GRCh38.p12 chr11: 5,854,637-5,862,087 OR52E8
    esv2421977copy number variation56estd195human NCBI36 chr3: 198,791,842-198,799,219 , GRCh37.p13 chr3: 197,307,445-197,314,822 , GRCh38.p12 chr3: 197,580,574-197,587,951 RPL36P7
    esv2421777copy number variation80estd195human NCBI36 chr8: 3,984,471-3,991,699 , GRCh37.p13 chr8: 3,997,063-4,004,291 , GRCh38.p12 chr8: 4,139,541-4,146,769 CSMD1
    esv2421435copy number variation23estd195human NCBI36 chr14: 45,671,842-45,678,725 , GRCh37.p13 chr14: 46,602,092-46,608,975 , GRCh38.p12 chr14: 46,132,889-46,139,772 LINC00871
    esv2421553copy number variation425estd195human NCBI36 chr1: 151,028,547-151,035,324 , GRCh37.p13 chr1: 152,761,923-152,768,700 , GRCh38.p12 chr1: 152,789,447-152,796,224 LCE1D
    esv2421656copy number variation19estd195human NCBI36 chr2: 118,377,621-118,383,656 , GRCh37.p13 chr2: 118,661,151-118,667,186 , GRCh38.p12 chr2: 117,903,575-117,909,610 HTR5BP
    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
    esv2421497copy number variation279estd195human NCBI36 chr3: 192,548,086-192,552,678 , GRCh37.p13 chr3: 191,065,392-191,069,984 , GRCh38.p12 chr3: 191,347,603-191,352,195 CCDC50
    esv2421664copy number variation262estd195human NCBI36 chr11: 90,206,161-90,210,686 , GRCh37.p13 chr11: 90,566,513-90,571,038 , GRCh38.p12 chr11: 90,833,345-90,837,870 DISC1FP1
    esv2421646copy number variation101estd195human NCBI36 chr4: 43,716,642-43,721,161 , GRCh37.p13 chr4: 44,021,885-44,026,404 , GRCh38.p12 chr4: 44,019,868-44,024,387 LINC02475
    esv2422010copy number variation36estd195human NCBI36 chr12: 945,143-949,429 , GRCh37.p13 chr12: 1,074,882-1,079,168 , GRCh38.p12 chr12: 965,716-970,002 RAD52
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