A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678780



Internal ID9745923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731371..63731533hg38UCSC Ensembl
Outerchr20:62362723..62362885hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722965, esv2722959, esv2722966
Supporting Variants
SamplesSSM032
Known GenesZGPAT
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)essv6678780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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