A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736683



Internal ID9971015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17199239..17199865hg38UCSC Ensembl
Outerchr8:17056748..17057374hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850121, essv6845446, essv6935380, essv6958075, essv6800565, essv6923639, essv6752072, essv6740494
SamplesSSM086, SSM057, SSM085, SSM009, SSM021, SSM052, 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)esv2736683
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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