A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717744



Internal ID10129450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61272995..61273739hg38UCSC Ensembl
Outerchr20:59848051..59848795hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722688, esv2722686
Supporting Variants
SamplesSSM043
Known GenesCDH4
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)essv6717744
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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