A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838130



Internal ID9891302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144601598..144601844hg38UCSC Ensembl
Outerchr8:145826982..145827228hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738079, esv2738080
Supporting Variants
SamplesSSM083
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)essv6838130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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