A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736326



Internal ID10319962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1840266..1840746hg38UCSC Ensembl
Outerchr8:1788432..1788912hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919459, essv6795278, essv6958002, essv6948384
SamplesSSM071, SSM024, SSM026, SSM017
Known GenesARHGEF10
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)esv2736326
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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