A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948384



Internal ID10055761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1840380..1840543hg38UCSC Ensembl
Outerchr8:1788546..1788709hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736327, esv2736326
Supporting Variants
SamplesSSM024
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)essv6948384
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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