A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716532



Internal ID9648306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731109..63731860hg38UCSC Ensembl
Outerchr20:62362461..62363212hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38752
hg19752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722965, esv2722959
Supporting Variants
SamplesSSM006
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)essv6716532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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