A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722864



Internal ID10306500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63028599..63029197hg38UCSC Ensembl
Outerchr20:61659951..61660549hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689007, essv6706960, essv6792859, essv6843427, essv6898305, essv6832203, essv6954271, essv6717758, essv6747493, essv6678776, essv6967334, essv6682472
SamplesSSM027, SSM084, SSM035, SSM032, SSM033, SSM081, SSM040, SSM055, SSM070, SSM025, SSM099, SSM043
Known GenesLOC63930
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)esv2722864
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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