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Items: 1 to 20 of 20206

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv16739copy number variation1estd20human NCBI36 chr2: 205,607,015-205,836,229 , GRCh37.p13 chr2: 205,898,770-206,127,984 , GRCh38.p12 chr2: 205,034,047-205,263,260 PARD3B
    esv28056sequence alteration1estd20human NCBI36 chr20: 12,575,634-12,789,804 , GRCh37.p13 chr20: 12,627,634-12,841,804 , GRCh38.p12 chr20: 12,646,987-12,861,156 LOC105372532
    esv18943copy number variation1estd20human NCBI36 chr20: 12,575,634-12,789,804 , GRCh37.p13 chr20: 12,627,634-12,841,804 , GRCh38.p12 chr20: 12,646,987-12,861,156 LOC105372532
    esv26800sequence alteration1estd20human NCBI36 chr11: 25,080,515-25,252,411 , GRCh37.p13 chr11|NW_003315936.1: 1-109,616 , GRCh37.p13 chr11: 25,123,939-25,295,835 , GRCh38.p12 chr11: 25,102,393-25,274,289 , GRCh38.p12 chr11|NW_003315936.1: 1-109,616 LOC100130747
    esv20837copy number variation1estd20human NCBI36 chr11: 25,080,515-25,252,411 , GRCh37.p13 chr11|NW_003315936.1: 1-109,616 , GRCh37.p13 chr11: 25,123,939-25,295,835 , GRCh38.p12 chr11: 25,102,393-25,274,289 , GRCh38.p12 chr11|NW_003315936.1: 1-109,616 LOC100130747
    esv22757sequence alteration8estd20human NCBI36 chr9: 44,666,667-44,814,086 , GRCh37.p13 chr9: 44,726,671-44,874,090 , GRCh38.p12 chr9: 61,518,833-61,666,252 LOC105379437
    esv26183sequence alteration10estd20human NCBI36 chrX: 823,260-967,488 , GRCh37.p13 chrX: 917,876-1,047,488 , GRCh37.p13 chrX|NW_003571064.2: 113,999-243,611 , GRCh38.p12 chrX: 942,525-1,086,753 RPL14P5
    esv27198sequence alteration6estd20human NCBI36 chr22: 14,884,750-15,008,665 , GRCh37.p13 chr22: 16,504,750-16,628,665 , GRCh38.p12 chr22: 15,349,298-15,473,213 BNIP3P2
    esv28045sequence alteration2estd20human NCBI36 chr15: 29,695,733-29,806,849 , GRCh37.p13 chr15: 31,908,441-32,019,557 , GRCh38.p12 chr15: 31,616,238-31,727,354 , GRCh38.p12 chr15|NT_187660.1: 3,901,389-4,012,490 , GRCh38.p12 chr15|NW_011332701.1: 3,788,937-3,900,038 OTUD7A
    esv29200sequence alteration1estd20human NCBI36 chr10: 55,609,735-55,717,727 , GRCh37.p13 chr10: 55,939,729-56,047,721 , GRCh38.p12 chr10: 54,179,969-54,287,961 PCDH15
    esv20105copy number variation1estd20human NCBI36 chr10: 55,609,735-55,717,727 , GRCh37.p13 chr10: 55,939,729-56,047,721 , GRCh38.p12 chr10: 54,179,969-54,287,961 PCDH15
    esv20743copy number variation1estd20human NCBI36 chr9: 38,765,681-38,863,964 , GRCh37.p13 chr9: 38,775,681-38,873,964 , GRCh38.p12 chr9: 38,775,684-38,873,967 LOC105376043
    esv29610sequence alteration2estd20human NCBI36 chr20: 28,033,715-28,124,670 , GRCh37.p13 chr20: 29,420,054-29,511,009 , GRCh38.p12 chr20: 30,185,378-30,276,333 CFTRP3
    esv17005copy number variation2estd20human NCBI36 chr20: 28,033,715-28,124,055 , GRCh37.p13 chr20: 29,420,054-29,510,394 , GRCh38.p12 chr20: 30,185,378-30,275,718 CFTRP3
    esv22589sequence alteration3estd20human NCBI36 chr1: 187,971,861-188,052,717 , GRCh37.p13 chr1: 189,705,238-189,786,094 , GRCh38.p12 chr1: 189,736,108-189,816,964 LINC01701
    esv22726sequence alteration6estd20human NCBI36 chr5: 21,485,958-21,561,508 , GRCh37.p13 chr5: 21,450,201-21,525,751 , GRCh38.p12 chr5: 21,450,092-21,525,642 GUSBP1
    esv17561copy number variation1estd20human NCBI36 chr1: 187,971,861-188,047,092 , GRCh37.p13 chr1: 189,705,238-189,780,469 , GRCh38.p12 chr1: 189,736,108-189,811,339 LINC01701
    esv28617sequence alteration2estd20human NCBI36 chr10: 56,889,479-56,961,505 , GRCh37.p13 chr10: 57,219,473-57,291,499 , GRCh38.p12 chr10: 55,459,713-55,531,739 PCDH15
    esv16507copy number variation1estd20human NCBI36 chr10: 56,889,479-56,961,505 , GRCh37.p13 chr10: 57,219,473-57,291,499 , GRCh38.p12 chr10: 55,459,713-55,531,739 PCDH15
    esv25906sequence alteration1estd20human NCBI36 chr5: 104,460,808-104,531,562 , GRCh37.p13 chr5: 104,432,909-104,503,663 , GRCh38.p12 chr5: 105,097,208-105,167,962 RAB9BP1
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