A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730793



Internal ID9965110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132680657..132680710hg38UCSC Ensembl
Outerchr5:132016349..132016402hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848861
SamplesSSM086
Known GenesIL4
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)esv2730793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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