A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730381



Internal ID10314017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81389620..81390699hg38UCSC Ensembl
Outerchr5:80685439..80686518hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757239, essv6914905, essv6926307, essv6930250
SamplesSSM059, SSM003, SSM020, SSM016
Known GenesACOT12, RNU5D-1, RNU5E-1
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)esv2730381
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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