A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857558



Internal ID9908600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110677097..110677691hg38UCSC Ensembl
Outerchr13:111329444..111330038hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748038, esv2748039, esv2748036, esv2748037
Supporting Variants
SamplesSSM087
Known GenesCARS2
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)essv6857558
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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