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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    esv2422036copy number variation70estd195human NCBI36 chr17: 6,047,210-6,073,498 , GRCh37.p13 chr17: 6,106,486-6,132,774 , GRCh38.p12 chr17: 6,203,166-6,229,454 RNU6-1264P
    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
    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
    esv2421683copy number variation34estd195human NCBI36 chr6: 160,548,895-160,558,066 , GRCh37.p13 chr6: 160,628,905-160,638,076 , GRCh38.p12 chr6: 160,207,873-160,217,044 SLC22A2
    esv2421437copy number variation23estd195human NCBI36 chr1: 208,671,369-208,680,239 , GRCh37.p13 chr1: 210,604,746-210,613,616 , GRCh38.p12 chr1: 210,431,402-210,440,272 , GRCh38.p12 chr1|NW_011332687.1: 211,144-220,014 HHAT
    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
    esv2421743copy number variation17estd195human NCBI36 chr8: 14,551,152-14,559,579 , GRCh37.p13 chr8: 14,506,781-14,515,208 , GRCh38.p12 chr8: 14,649,272-14,657,699 SGCZ
    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
    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
    esv2421755copy number variation61estd195human NCBI36 chr11: 104,429,072-104,436,443 , GRCh37.p13 chr11: 104,923,862-104,931,233 , GRCh38.p12 chr11: 105,053,135-105,060,506 LOC107984381
    esv2421465copy number variation104estd195human NCBI36 chr8: 40,302,954-40,308,706 , GRCh37.p13 chr8: 40,183,797-40,189,549 , GRCh38.p12 chr8: 40,326,278-40,332,030 SIRLNT
    esv2421908copy number variation119estd195human NCBI36 chr12: 85,219,843-85,225,388 , GRCh37.p13 chr12: 86,695,712-86,701,257 , GRCh38.p12 chr12: 86,301,934-86,307,479 MGAT4C
    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
    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
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