A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726998



Internal ID9961306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6329380..6329922hg38UCSC Ensembl
Outerchr4:6331107..6331649hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730330
SamplesSSM047
Known GenesPPP2R2C
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)esv2726998
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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