A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730887



Internal ID10314523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147243064..147243531hg38UCSC Ensembl
Outerchr5:146622627..146623094hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757280, essv6886797, essv6926830, essv6884088, essv6730737, essv6734242, essv6848883, essv6914950
SamplesSSM059, SSM047, SSM003, SSM086, SSM016, SSM095, SSM049, SSM012
Known GenesSTK32A
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)esv2730887
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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