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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421826copy number variation134estd195human NCBI36 chr2: 203,004,020-203,020,446 , GRCh37.p13 chr2: 203,295,775-203,312,201 , GRCh38.p12 chr2: 202,431,052-202,447,478 BMPR2
    esv2421365copy number variation71estd195human NCBI36 chr4: 42,391,423-42,404,178 , GRCh37.p13 chr4: 42,696,666-42,709,421 , GRCh38.p12 chr4: 42,694,649-42,707,404 LOC105374430
    esv2421420copy number variation203estd195human NCBI36 chr5: 155,409,350-155,421,495 , GRCh37.p13 chr5: 155,476,772-155,488,917 , GRCh38.p12 chr5: 156,049,762-156,061,907 SGCD
    esv2421718copy number variation132estd195human NCBI36 chr8: 75,478,412-75,490,452 , GRCh37.p13 chr8: 75,315,857-75,327,897 , GRCh38.p12 chr8: 74,403,622-74,415,662 GDAP1
    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
    esv2421887copy number variation172estd195human NCBI36 chr2: 180,121,607-180,130,382 , GRCh37.p13 chr2: 180,413,362-180,422,137 , GRCh38.p12 chr2: 179,548,635-179,557,410 ZNF385B
    esv2421536copy number variation303estd195human NCBI36 chr4: 20,977,437-20,985,949 , GRCh37.p13 chr4: 21,368,339-21,376,851 , GRCh38.p12 chr4: 21,366,716-21,375,228 KCNIP4
    esv2421568copy number variation187estd195human NCBI36 chr4: 152,095,801-152,103,763 , GRCh37.p13 chr4: 151,876,351-151,884,313 , GRCh38.p12 chr4: 150,955,199-150,963,161 LRBA
    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
    esv2421513copy number variation39estd195human NCBI36 chr1: 8,105,049-8,112,441 , GRCh37.p13 chr1: 8,182,462-8,189,854 , GRCh38.p12 chr1: 8,122,402-8,129,794 LOC107984915
    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
    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
    esv2421763copy number variation544estd195human NCBI36 chr3: 191,220,845-191,227,315 , GRCh37.p13 chr3: 189,738,151-189,744,621 , GRCh38.p12 chr3: 190,020,362-190,026,832 P3H2
    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
    esv2422178copy number variation65estd195human NCBI36 chr3: 150,446,085-150,450,811 , GRCh37.p13 chr3: 148,963,395-148,968,121 , GRCh38.p12 chr3: 149,245,608-149,250,334 CPHL1P
    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
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