A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745304



Internal ID9979588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133458232..133458454hg38UCSC Ensembl
Outerchr11:133328127..133328349hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783519, essv6977077, essv6688240, essv6709443, essv6944876, essv6953167, essv6706166, essv6787705, essv6695489, essv6800160, essv6851093
SamplesSSM041, SSM023, SSM069, SSM029, SSM035, SSM086, SSM068, SSM040, SSM072, SSM037, SSM025
Known GenesOPCML
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)esv2745304
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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