A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670943



Internal ID10086649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176530308..176530447hg38UCSC Ensembl
Outerchr5:175957309..175957448hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731169, esv2731170
Supporting Variants
SamplesSSM031
Known GenesRNF44
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)essv6670943
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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