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Items: 1 to 20 of 136

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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
    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
    esv2422018copy number variation269estd195human NCBI36 chr11: 7,769,616-7,788,834 , GRCh37.p13 chr11: 7,813,040-7,832,258 , GRCh38.p12 chr11: 7,791,493-7,810,711 , GRCh38.p12 chr11|NT_187583.1: 12,361-31,579 , GRCh38.p12 chr11|NW_011332695.1: 12,361-31,581 OR5P2
    esv2421709copy number variation526estd195human NCBI36 chr7: 133,435,717-133,449,737 , GRCh37.p13 chr7: 133,785,177-133,799,197 , GRCh38.p12 chr7: 134,100,424-134,114,444
    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
    esv2422030copy number variation614estd195human NCBI36 chr2: 179,775,437-179,787,389 , GRCh37.p13 chr2: 180,067,192-180,079,144 , GRCh38.p12 chr2: 179,202,465-179,214,417 SESTD1
    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
    esv2421329copy number variation23estd195human NCBI36 chr17: 70,056,258-70,066,802 , GRCh37.p13 chr17: 72,544,663-72,555,207 , GRCh38.p12 chr17: 74,548,524-74,559,068 CD300H
    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
    esv2421817copy number variation26estd195human NCBI36 chr3: 41,755,151-41,763,496 , GRCh37.p13 chr3: 41,780,147-41,788,492 , GRCh38.p12 chr3: 41,738,655-41,747,000 ULK4
    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
    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
    esv2421804copy number variation347estd195human NCBI36 chr13: 31,430,622-31,436,423 , GRCh37.p13 chr13: 32,532,622-32,538,423 , GRCh38.p12 chr13: 31,958,485-31,964,286 EEF1DP3
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