A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678446



Internal ID9746782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89587959..89588292hg38UCSC Ensembl
Outerchr16:89654367..89654700hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715178
Supporting Variants
SamplesSSM032
Known GenesCPNE7
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)essv6678446
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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