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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    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
    esv2421678copy number variation94estd195human NCBI36 chr13: 68,146,300-68,166,243 , GRCh37.p13 chr13: 69,248,299-69,268,242 , GRCh38.p12 chr13: 68,674,167-68,694,110 RN7SL761P
    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
    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
    esv2422149copy number variation153estd195human NCBI36 chr10: 124,331,524-124,341,587 , GRCh37.p13 chr10: 124,341,534-124,351,597 , GRCh38.p12 chr10: 122,582,018-122,592,081 DMBT1
    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
    esv2422096copy number variation165estd195human NCBI36 chr1: 72,528,637-72,535,958 , GRCh37.p13 chr1: 72,756,049-72,763,370 , GRCh38.p12 chr1: 72,290,366-72,297,687 , GRCh38.p12 chr1|NW_018654707.1: 2,633-9,954 LOC105378797
    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
    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
    esv2421868copy number variation618estd195human NCBI36 chr12: 44,190,705-44,195,804 , GRCh37.p13 chr12: 45,904,438-45,909,537 , GRCh38.p12 chr12: 45,510,655-45,515,754 LOC105369743
    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
    esv2422082copy number variation125estd195human NCBI36 chr12: 739,370-744,290 , GRCh37.p13 chr12: 869,109-874,029 , GRCh38.p12 chr12: 759,943-764,863 WNK1
    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
    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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