A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682164



Internal ID9748240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89587594..89588459hg38UCSC Ensembl
Outerchr16:89654002..89654867hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740858
Supporting Variants
SamplesSSM033
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)essv6682164
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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