A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv139e201



Internal ID18983778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58845738..59113363hg38UCSC Ensembl
chr11:58613211..58880836hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38267626
hg19267626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2744557, esv2744559
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, SSM062, SSM005, SSM012, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesFAM111B, GLYATL1, LOC283194
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv139e201
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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