A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924230



Internal ID9686908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76494528..76494724hg38UCSC Ensembl
Outerchr11:76205572..76205768hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744790
Supporting Variants
SamplesSSM018
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)essv6924230
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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