A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745077



Internal ID3293029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949712..112188677hg38UCSC Ensembl
Outerchr11:111820436..112059400hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38238966
hg19238965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712923, essv6898611, essv6970607, essv6724430, essv6873616, essv6768441, essv6936042, essv6827636, essv6887954, essv6716720, essv6805031, essv6970730, essv6709432, essv6752516, essv6758180, essv6838554, essv6743968, essv6691530, essv6831247, essv6815408, essv6673053, essv6867053, essv6885035, essv6760917, essv6688227, essv6834354, essv6732057, essv6865064, essv6916058, essv6783502, essv6931760, essv6791782, essv6720619, essv6806322, essv6800137, essv6834822, essv6977030, essv6908790, essv6927860, essv6944857
SamplesSSM010, SSM053, SSM082, SSM036, SSM091, SSM061, SSM042, SSM043, SSM089, SSM064, SSM031, SSM035, SSM072, SSM020, SSM016, SSM057, SSM045, SSM083, SSM041, SSM077, SSM012, SSM009, SSM011, SSM028, SSM029, SSM095, SSM047, SSM021, SSM019, SSM096, SSM023, SSM068, SSM044, SSM074, SSM004, SSM014, SSM059, SSM081, SSM070, SSM080
Known GenesBCO2, C11orf57, DIXDC1, DLAT, IL18, PIH1D2, SDHD, TEX12, TIMM8B
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)esv2745077
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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