A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742160



Internal ID9976444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69275693..69404130hg38UCSC Ensembl
Outerchr4:70141411..70269848hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38128438
hg19128438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv845e201
Supporting Variantsessv6829742
SamplesSSM081
Known GenesUGT2B28
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)esv2742160
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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