A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681963



Internal ID10094745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69393435..69393636hg38UCSC Ensembl
Outerchr15:69685774..69685975hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749831, esv2749832
Supporting Variants
SamplesSSM033
Known GenesPAQR5
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)essv6681963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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