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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421607copy number variation228estd195human NCBI36 chr14: 40,679,974-40,738,084 , GRCh37.p13 chr14: 41,610,224-41,668,334 , GRCh38.p12 chr14: 41,141,021-41,199,131 LINC02315
    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
    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
    esv2421333copy number variation29estd195human NCBI36 chr16: 58,640,107-58,654,487 , GRCh37.p13 chr16: 60,082,606-60,096,986 , GRCh38.p12 chr16: 60,048,702-60,063,082 LINC02141
    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
    esv2421449copy number variation100estd195human NCBI36 chr3: 53,003,023-53,014,529 , GRCh37.p13 chr3: 53,027,983-53,039,489 , GRCh38.p12 chr3: 52,993,967-53,005,473 SFMBT1
    esv2422041copy number variation263estd195human NCBI36 chr21: 22,576,805-22,586,529 , GRCh37.p13 chr21|NW_003315968.1: 186,844-196,568 , GRCh37.p13 chr21: 23,654,934-23,664,658 , GRCh38.p12 chr21: 22,282,614-22,292,338 , GRCh38.p12 chr21|NW_003315968.2: 186,843-196,567 LOC107985508
    esv2421893copy number variation109estd195human NCBI36 chr18: 64,897,086-64,906,488 , GRCh37.p13 chr18: 66,746,106-66,755,508 , GRCh38.p12 chr18: 69,078,869-69,088,271 CCDC102B
    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
    esv2421747copy number variation118estd195human NCBI36 chr2: 49,387,002-49,394,694 , GRCh37.p13 chr2: 49,533,498-49,541,190 , GRCh38.p12 chr2: 49,306,359-49,314,051 LOC105374595
    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
    esv2421653copy number variation48estd195human NCBI36 chr15: 45,994,758-46,001,995 , GRCh37.p13 chr15: 48,207,466-48,214,703 , GRCh38.p12 chr15: 47,915,269-47,922,506 LOC105370805
    esv2422037copy number variation115estd195human NCBI36 chr3: 37,954,886-37,961,932 , GRCh37.p13 chr3: 37,979,882-37,986,928 , GRCh38.p12 chr3: 37,938,391-37,945,437 CTDSPL
    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
    esv2421563copy number variation482estd195human NCBI36 chr3: 133,190,847-133,195,707 , GRCh37.p13 chr3: 131,708,157-131,713,017 , GRCh38.p12 chr3: 131,989,313-131,994,173 CPNE4
    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
    esv2421498copy number variation322estd195human NCBI36 chr19: 41,534,966-41,539,338 , GRCh37.p13 chr19: 36,843,126-36,847,498 , GRCh38.p12 chr19: 36,352,224-36,356,596 ZFP14
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