A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675990



Internal ID9942095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149486616..149487392hg38UCSC Ensembl
Outerchr5:149486579..149487442hg38UCSC Ensembl
Innerchr5:148866179..148866955hg19UCSC Ensembl
Outerchr5:148866142..148867005hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6173247
SamplesNA18951
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675990
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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