A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678422



Internal ID9746858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83637250..83643293hg38UCSC Ensembl
Outerchr16:83670855..83676898hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386044
hg196044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714808
Supporting Variants
SamplesSSM032
Known GenesCDH13
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)essv6678422
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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