A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730848



Internal ID9965165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141673911..141677426hg38UCSC Ensembl
Outerchr5:141053478..141056993hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383516
hg193516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697817
SamplesSSM038
Known GenesARAP3
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)esv2730848
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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