A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736685



Internal ID9971017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17199406..17199674hg38UCSC Ensembl
Outerchr8:17056915..17057183hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958075, essv6923639, essv6752072
SamplesSSM057, SSM026, SSM018
Known GenesZDHHC2
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)esv2736685
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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