A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728777



Internal ID9963092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176740014..176740158hg38UCSC Ensembl
Outerchr4:177661168..177661312hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722902
SamplesSSM045
Known GenesVEGFC
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)esv2728777
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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