A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690419



Internal ID14711396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70155848..70163246hg38UCSC Ensembl
Innerchr16:70156848..70162246hg38UCSC Ensembl
Outerchr16:70154848..70164246hg38UCSC Ensembl
chr16:70189751..70197149hg19UCSC Ensembl
Innerchr16:70190751..70196149hg19UCSC Ensembl
Outerchr16:70188751..70198149hg19UCSC Ensembl
chr16:68747252..68754650hg18UCSC Ensembl
Innerchr16:68748252..68753650hg18UCSC Ensembl
Outerchr16:68746252..68755650hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387399
hg197399
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3365753
Supporting Variants
SamplesNA19239
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690419
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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