A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348253



Internal ID14848518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70155848..70163746hg38UCSC Ensembl
Innerchr16:70156848..70162746hg38UCSC Ensembl
Outerchr16:70154848..70164746hg38UCSC Ensembl
chr16:70189751..70197649hg19UCSC Ensembl
Innerchr16:70190751..70196649hg19UCSC Ensembl
Outerchr16:70188751..70198649hg19UCSC Ensembl
chr16:68747252..68755150hg18UCSC Ensembl
Innerchr16:68748252..68754150hg18UCSC Ensembl
Outerchr16:68746252..68756150hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387899
hg197899
hg187899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1627e59
Supporting Variantsessv8690421
SamplesNA19240
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348253
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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