A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744790



Internal ID9979074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76494427..76494724hg38UCSC Ensembl
Outerchr11:76205471..76205768hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920056, essv6924230, essv6976976
SamplesSSM017, SSM029, SSM018
Known GenesC11orf30
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)esv2744790
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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