A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745077

Internal ID9979361
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949712..112188677hg38UCSC Ensembl
Outerchr11:111820436..112059400hg19UCSC Ensembl
Allele length
AssemblyAllele length
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, essv6783502, essv6916058, essv6791782, essv6931760, 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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745077
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0

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