A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6918541



Internal ID9682278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83092887..83093951hg38UCSC Ensembl
Outerchr5:82388706..82389770hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730397
Supporting Variants
SamplesSSM017
Known GenesXRCC4
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)essv6918541
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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