A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5631850



Internal ID8802413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149919241..149924032hg38UCSC Ensembl
Outerchr5:149919084..149924185hg38UCSC Ensembl
Innerchr5:149298804..149303595hg19UCSC Ensembl
Outerchr5:149298647..149303748hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666734
Supporting Variants
SamplesHG00247
Known GenesPDE6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5631850
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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