A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690421



Internal ID14752906
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 Flag1
Merged StatusS
Merged Variantsesv3348253
Supporting Variants
SamplesNA19240
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690421
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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