A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920813



Internal ID10031009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81866400..81866626hg38UCSC Ensembl
Outerchr16:81900005..81900231hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714794
Supporting Variants
SamplesSSM017
Known GenesPLCG2
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)essv6920813
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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