A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730247



Internal ID10313883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61660556..61660714hg38UCSC Ensembl
Outerchr5:60956383..60956541hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680204
SamplesSSM033
Known GenesC5orf64
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)esv2730247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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