A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805984



Internal ID9862336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144544872..144545253hg38UCSC Ensembl
Outerchr8:145770256..145770637hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738076
Supporting Variants
SamplesSSM074
Known GenesARHGAP39
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)essv6805984
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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