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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    esv2422170copy number variation291estd195human NCBI36 chr6: 79,025,784-79,091,904 , GRCh37.p13 chr6: 78,969,065-79,035,185 , GRCh38.p12 chr6: 78,259,348-78,325,468 LOC105377865
    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
    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
    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
    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
    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
    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
    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
    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
    esv2421572copy number variation536estd195human NCBI36 chr15: 74,678,296-74,682,830 , GRCh37.p13 chr15: 76,891,241-76,895,775 , GRCh38.p12 chr15: 76,598,900-76,603,434 SCAPER
    esv2421564copy number variation219estd195human NCBI36 chr6: 66,456,203-66,460,573 , GRCh37.p13 chr6: 66,399,482-66,403,852 , GRCh38.p12 chr6: 65,689,589-65,693,959 EYS
    esv2421523copy number variation929estd195human NCBI36 chr6: 165,647,807-165,651,918 , GRCh37.p13 chr6: 165,727,817-165,731,928 , GRCh38.p12 chr6: 165,314,328-165,318,439 LOC105378113
    esv2421402copy number variation1106estd195human NCBI36 chr4: 173,661,522-173,665,218 , GRCh37.p13 chr4: 173,424,947-173,428,643 , GRCh38.p12 chr4: 172,503,796-172,507,492 GALNTL6
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