A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722966



Internal ID9957266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731357..63731548hg38UCSC Ensembl
Outerchr20:62362709..62362900hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678780, essv6871405
SamplesSSM090, SSM032
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)esv2722966
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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