A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729753



Internal ID10313389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:11310613..11311091hg38UCSC Ensembl
Outerchr5:11310725..11311203hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690200
SamplesSSM036
Known GenesCTNND2
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)esv2729753
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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