A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928421



Internal ID9690976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66379970..66380215hg38UCSC Ensembl
Outerchr16:66413873..66414118hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714642, esv2714643
Supporting Variants
SamplesSSM019
Known GenesCDH5
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)essv6928421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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