A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730121



Internal ID10313757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40851493..40851705hg38UCSC Ensembl
Outerchr5:40851595..40851807hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730657
SamplesSSM047
Known GenesCARD6
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)esv2730121
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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