A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728779



Internal ID9963094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176929930..176931090hg38UCSC Ensembl
Outerchr4:177851084..177852244hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700652, essv6833450
SamplesSSM039, SSM082
Known Genes
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)esv2728779
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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