A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731198



Internal ID9965515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177467996..177468100hg38UCSC Ensembl
Outerchr5:176894997..176895101hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855052
SamplesSSM087
Known GenesDBN1
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)esv2731198
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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