A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417151



Internal ID15264109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6447039..6448637hg38UCSC Ensembl
Innerchr5:6447637..6448039hg38UCSC Ensembl
Outerchr5:6446039..6449637hg38UCSC Ensembl
chr5:6447152..6448750hg19UCSC Ensembl
Innerchr5:6447750..6448152hg19UCSC Ensembl
Outerchr5:6446152..6449750hg19UCSC Ensembl
chr5:6500152..6501750hg18UCSC Ensembl
Innerchr5:6501152..6500750hg18UCSC Ensembl
Outerchr5:6499152..6502750hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3218e59
Supporting Variantsessv8694836
SamplesNA19238
Known GenesUBE2QL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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