A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730298



Internal ID10313934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73016175..73016509hg38UCSC Ensembl
Outerchr5:72312002..72312336hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667429, essv6886252
SamplesSSM030, SSM012
Known GenesFCHO2
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)esv2730298
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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