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Items: 1 to 20 of 1373

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv11812copy number variation28estd20human NCBI36 chr20: 1,500,338-1,544,222 , GRCh37.p13 chr20: 1,552,338-1,596,222 , GRCh38.p12 chr20: 1,571,692-1,615,576 SIRPB1
    esv13095copy number variation2estd20human NCBI36 chr5: 101,194,649-101,235,175 , GRCh37.p13 chr5: 101,166,750-101,207,276 , GRCh38.p12 chr5: 101,831,046-101,871,572 LOC105379102
    esv12664copy number variation23estd20human NCBI36 chr2: 73,863,215-73,892,893 , GRCh37.p13 chr2: 74,009,707-74,039,385 , GRCh38.p12 chr2: 73,782,580-73,812,258 C2orf78
    esv19221copy number variation22estd20human NCBI36 chr10: 47,875,346-47,900,761 , GRCh37.p13 chr10|NW_003871068.1: 1,729,722-1,755,137 , GRCh37.p13 chr10: 48,255,340-48,280,755 , GRCh38.p12 chr10: 47,458,607-47,484,022 ANXA8
    esv15136copy number variation40estd20human NCBI36 chr10: 56,116,082-56,139,577 , GRCh37.p13 chr10: 56,446,076-56,469,571 , GRCh38.p12 chr10: 54,686,316-54,709,811 PCDH15
    esv15700copy number variation1estd20human NCBI36 chr11: 25,563,211-25,584,913 , GRCh37.p13 chr11: 25,606,635-25,628,337 , GRCh38.p12 chr11: 25,585,089-25,606,791 RPL36AP40
    esv10869copy number variation29estd20human NCBI36 chr7: 64,219,176-64,239,264 , GRCh37.p13 chr7: 64,581,741-64,601,829 , GRCh38.p12 chr7: 65,121,363-65,141,451 INTS4P1
    esv19413copy number variation34estd20human NCBI36 chr15: 82,606,345-82,625,912 , GRCh37.p13 chr15: 84,815,341-84,834,908 , GRCh38.p12 chr15: 84,146,589-84,166,156 DNM1P41
    esv18524copy number variation7estd20human NCBI36 chr5: 155,409,234-155,427,600 , GRCh37.p13 chr5: 155,476,656-155,495,022 , GRCh38.p12 chr5: 156,049,646-156,068,012 SGCD
    esv11184copy number variation2estd20human NCBI36 chr13: 18,574,453-18,592,576 , GRCh37.p13 chr13: 19,676,453-19,694,576 , GRCh38.p12 chr13: 19,102,313-19,120,436 LOC107984132
    esv13191copy number variation5estd20human NCBI36 chr2: 203,003,579-203,021,091 , GRCh37.p13 chr2: 203,295,334-203,312,846 , GRCh38.p12 chr2: 202,430,611-202,448,123 BMPR2
    esv15115copy number variation3estd20human NCBI36 chrX: 72,730,219-72,747,553 , GRCh37.p13 chrX: 72,813,494-72,830,828 , GRCh38.p12 chrX: 73,593,658-73,610,993 CHIC1
    esv10448copy number variation15estd20human NCBI36 chr6: 33,131,047-33,147,969 , GRCh37.p13 chr6: 33,023,069-33,039,991 , GRCh37.p13 chr6|NT_167247.1: 4,359,938-4,376,864 , GRCh37.p13 chr6|NT_167249.1: 4,503,607-4,520,495 , GRCh37.p13 chr6|NT_167244.1: 4,309,883-4,326,810 , GRCh37.p13 chr6|NT_167245.1: 4,304,407-4,321,330 , GRCh38.p12 chr6: 33,055,292-33,072,214 , GRCh38.p12 chr6|NT_167247.2: 4,354,353-4,371,279 , GRCh38.p12 chr6|NT_167249.2: 4,504,309-4,521,197 , GRCh38.p12 chr6|NT_167245.2: 4,298,822-4,315,745 , GRCh38.p12 chr6|NT_167244.2: 4,359,967-4,376,894 HLA-DPA1
    esv15836copy number variation33estd20human NCBI36 chr10: 124,350,342-124,366,814 , GRCh37.p13 chr10: 124,360,352-124,376,824 , GRCh38.p12 chr10: 122,600,836-122,617,308 DMBT1
    esv14583copy number variation30estd20human NCBI36 chr8: 1,328,300-1,343,560 , GRCh37.p13 chr8: 1,340,893-1,356,153 , GRCh38.p12 chr8: 1,392,727-1,407,987 , GRCh38.p12 chr8|NT_187654.1: 3,011-18,271 DLGAP2
    esv17490copy number variation9estd20human NCBI36 chr8: 75,477,632-75,492,637 , GRCh37.p13 chr8: 75,315,077-75,330,082 , GRCh38.p12 chr8: 74,402,842-74,417,847 GDAP1
    esv11417copy number variation28estd20human NCBI36 chr4: 188,117,466-188,131,790 , GRCh37.p13 chr4: 187,880,472-187,894,796 , GRCh38.p12 chr4: 186,959,318-186,973,642 LOC102723906
    esv10201copy number variation28estd20human NCBI36 chr3: 196,987,592-197,000,002 , GRCh37.p13 chr3: 195,501,958-195,515,607 , GRCh38.p12 chr3: 195,775,087-195,788,736 , GRCh38.p12 chr3|NT_187678.1: 10,993-18,211 , GRCh38.p12 chr3|NT_187532.1: 146,210-156,729 MUC4
    esv9904copy number variation1estd20human NCBI36 chr2: 208,941,931-208,955,577 , GRCh37.p13 chr2: 209,233,686-209,247,332 , GRCh38.p12 chr2: 208,368,961-208,382,607 PTH2R
    esv18667copy number variation6estd20human NCBI36 chr9: 504,311-517,853 , GRCh37.p13 chr9: 514,311-527,853 , GRCh38.p12 chr9: 514,311-527,853 KANK1
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