A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727211



Internal ID9961519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14914406..14914602hg38UCSC Ensembl
Outerchr4:14916030..14916226hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742688
SamplesSSM053
Known GenesCPEB2-AS1
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)esv2727211
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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