A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6841198



Internal ID9661385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731270..63731898hg38UCSC Ensembl
Outerchr20:62362622..62363250hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722965, esv2722959
Supporting Variants
SamplesSSM010
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)essv6841198
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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