A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727893



Internal ID9962205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:82426649..82427407hg38UCSC Ensembl
Outerchr4:83347802..83348560hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693697
SamplesSSM037
Known GenesHNRNPDL
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)esv2727893
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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