A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5889548



Internal ID8866951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147013353..147017359hg38UCSC Ensembl
Outerchr5:147012982..147017729hg38UCSC Ensembl
Innerchr5:146392916..146396922hg19UCSC Ensembl
Outerchr5:146392545..146397292hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675913
Supporting Variants
SamplesNA18538
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5889548
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer