A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744344



Internal ID9978628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35156133..35158315hg38UCSC Ensembl
Outerchr11:35177680..35179862hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382183
hg192183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803372
SamplesSSM073
Known GenesCD44
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)esv2744344
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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