A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724909



Internal ID9959211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11167268..11167546hg38UCSC Ensembl
Outerchr3:11208954..11209232hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714748, essv6745314, essv6847846
SamplesSSM086, SSM055, SSM043
Known GenesHRH1
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)esv2724909
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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