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Results: 1 to 20 of 146

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Number of Variants: 20

Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
esv3541034copy number variation1estd215human GRCh37 (hg19) chr1: 155,228,109-155,228,132 , GRCh38 chr1: 155,258,318-155,258,341 , GRCh38 chr1|NW_003315906.1: 63,341-63,364 SCAMP3
esv3453087copy number variation4estd59human NCBI36 (hg18) chr1: 153,453,352-153,458,550 , GRCh37.p13 chr1|NW_003315906.1: 21,967-27,166 , GRCh37 (hg19) chr1: 155,186,728-155,191,926 , GRCh38 chr1: 155,216,937-155,222,135 , GRCh38 chr1|NW_003315906.1: 21,967-27,166 0
esv3453088copy number variation1estd59human NCBI36 (hg18) chr1: 153,453,352-153,458,550 , GRCh37.p13 chr1|NW_003315906.1: 21,967-27,166 , GRCh37 (hg19) chr1: 155,186,728-155,191,926 , GRCh38 chr1: 155,216,937-155,222,135 , GRCh38 chr1|NW_003315906.1: 21,967-27,166 0
esv3453090copy number variation1estd59human NCBI36 (hg18) chr1: 153,459,852-153,465,850 , GRCh37 (hg19) chr1: 155,193,228-155,199,226 , GRCh37.p13 chr1|NW_003315906.1: 28,468-34,459 , GRCh38 chr1|NW_003315906.1: 28,468-34,459 , GRCh38 chr1: 155,223,437-155,229,435 0
esv3447336copy number variation3estd59human NCBI36 (hg18) chr1: 153,527,391-153,527,424 , GRCh37.p13 chr1|NW_003315906.1: 95,999-96,032 , GRCh37 (hg19) chr1: 155,260,767-155,260,800 , GRCh38 chr1: 155,290,976-155,291,009 , GRCh38 chr1|NW_003315906.1: 95,999-96,032 PKLR
esv3453089copy number variation7estd59human NCBI36 (hg18) chr1: 153,459,852-153,465,850 , GRCh37 (hg19) chr1: 155,193,228-155,199,226 , GRCh37.p13 chr1|NW_003315906.1: 28,468-34,459 , GRCh38 chr1|NW_003315906.1: 28,468-34,459 , GRCh38 chr1: 155,223,437-155,229,435 0
esv3435735copy number variation1estd59human NCBI36 (hg18) chr1: 153,451,381-153,469,803 , GRCh37.p13 chr1|NW_003315906.1: 19,994-38,411 , GRCh37 (hg19) chr1: 155,184,757-155,203,179 , GRCh38 chr1|NW_003315906.1: 19,994-38,411 , GRCh38 chr1: 155,214,966-155,233,388 0
esv3419617copy number variation39estd59human NCBI36 (hg18) chr1: 153,465,152-153,469,450 , GRCh37 (hg19) chr1: 155,198,528-155,202,826 , GRCh37.p13 chr1|NW_003315906.1: 33,760-38,058 , GRCh38 chr1|NW_003315906.1: 33,760-38,058 , GRCh38 chr1: 155,228,737-155,233,035 0
esv3409536copy number variation1estd59human NCBI36 (hg18) chr1: 153,450,315-153,470,988 , GRCh37.p13 chr1|NW_003315906.1: 18,928-39,596 , GRCh37 (hg19) chr1: 155,183,691-155,204,364 , GRCh38 chr1|NW_003315906.1: 18,928-39,596 , GRCh38 chr1: 155,213,900-155,234,573 GBA
esv3409851copy number variation1estd59human NCBI36 (hg18) chr1: 153,466,513-153,466,881 , GRCh37 (hg19) chr1: 155,199,889-155,200,257 , GRCh37.p13 chr1|NW_003315906.1: 35,121-35,489 , GRCh38 chr1|NW_003315906.1: 35,121-35,489 , GRCh38 chr1: 155,230,098-155,230,466 0
esv3397308copy number variation14estd59human NCBI36 (hg18) chr1: 153,462,452-153,466,750 , GRCh37.p13 chr1|NW_003315906.1: 31,066-35,358 , GRCh37 (hg19) chr1: 155,195,828-155,200,126 , GRCh38 chr1: 155,226,037-155,230,335 , GRCh38 chr1|NW_003315906.1: 31,066-35,358 0
esv3394856copy number variation1estd59human NCBI36 (hg18) chr1: 153,451,331-153,472,036 , GRCh37.p13 chr1|NW_003315906.1: 19,944-40,644 , GRCh37 (hg19) chr1: 155,184,707-155,205,412 , GRCh38 chr1|NW_003315906.1: 19,944-40,644 , GRCh38 chr1: 155,214,916-155,235,621 GBA
esv3393504copy number variation44estd59human NCBI36 (hg18) chr1: 153,456,752-153,461,050 , GRCh37.p13 chr1|NW_003315906.1: 25,367-29,664 , GRCh37 (hg19) chr1: 155,190,128-155,194,426 , GRCh38 chr1: 155,220,337-155,224,635 , GRCh38 chr1|NW_003315906.1: 25,367-29,664 0
esv3384525copy number variation1estd59human NCBI36 (hg18) chr1: 153,501,452-153,506,050 , GRCh37 (hg19) chr1: 155,234,828-155,239,426 , GRCh37.p13 chr1|NW_003315906.1: 70,060-74,658 , GRCh38 chr1: 155,265,037-155,269,635 , GRCh38 chr1|NW_003315906.1: 70,060-74,658 CLK2
esv3373583copy number variation1estd59human NCBI36 (hg18) chr1: 153,449,779-153,470,246 , GRCh37 (hg19) chr1: 155,183,155-155,203,622 , GRCh37.p13 chr1|NW_003315906.1: 18,392-38,854 , GRCh38 chr1|NW_003315906.1: 18,392-38,854 , GRCh38 chr1: 155,213,364-155,233,831 MTX1
esv2999733copy number variation1estd209human GRCh37 (hg19) chr1: 155,230,705-155,230,706 , GRCh38 chr1|NW_003315906.1: 65,937-65,938 , GRCh38 chr1: 155,260,914-155,260,915 SCAMP3
esv2999731copy number variation1estd209human GRCh37 (hg19) chr1: 155,227,642-155,227,643 , GRCh38 chr1: 155,257,851-155,257,852 , GRCh38 chr1|NW_003315906.1: 62,874-62,875 SCAMP3
esv2999732copy number variation1estd209human GRCh37 (hg19) chr1: 155,228,109-155,228,132 , GRCh38 chr1: 155,258,318-155,258,341 , GRCh38 chr1|NW_003315906.1: 63,341-63,364 SCAMP3
esv2999730copy number variation1estd209human GRCh37 (hg19) chr1: 155,222,001-155,222,002 , GRCh38 chr1|NW_003315906.1: 57,233-57,234 , GRCh38 chr1: 155,252,210-155,252,211 FAM189B
esv2999735copy number variation1estd209human GRCh37 (hg19) chr1: 155,272,028-155,272,029 , GRCh38 chr1: 155,302,237-155,302,238 , GRCh38 chr1|NW_003315906.1: 107,260-107,261 PKLR

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