A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858547



Internal ID10256177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:8206989..8207148hg38UCSC Ensembl
Outerchr20:8187636..8187795hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722153, esv2722154
Supporting Variants
SamplesSSM087
Known GenesPLCB1
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)essv6858547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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