A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv46e201



Internal ID6312557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144854764..146518904hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv2717307, esv2717217
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesANKRD34A, ANKRD35, CD160, GNRHR2, GPR89A, GPR89C, HFE2, ITGA10, LIX1L, LOC728989, NBPF10, NBPF11, NBPF24, NOTCH2NL, NUDT17, PDE4DIP, PDZK1, PDZK1P1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, SEC22B, TXNIP
Method
Analysis
Platform
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv46e201
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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