A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927223



Internal ID14821514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154880906..154880941hg38UCSC Ensembl
Innerchr5:154880911..154880936hg38UCSC Ensembl
Outerchr5:154880876..154880971hg38UCSC Ensembl
chr5:154260466..154260501hg19UCSC Ensembl
Innerchr5:154260471..154260496hg19UCSC Ensembl
Outerchr5:154260436..154260531hg19UCSC Ensembl
chr5:154240659..154240694hg18UCSC Ensembl
Innerchr5:154240689..154240664hg18UCSC Ensembl
Outerchr5:154240629..154240724hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446405
Supporting Variants
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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