A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5916258



Internal ID8893661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147015148..147017744hg38UCSC Ensembl
chr5:146394711..146397307hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382597
hg192597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672689
Supporting Variants
SamplesNA19072
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5916258
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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