A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690418



Internal ID14679013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70155848..70163146hg38UCSC Ensembl
Innerchr16:70156848..70162146hg38UCSC Ensembl
Outerchr16:70154848..70164146hg38UCSC Ensembl
chr16:70189751..70197049hg19UCSC Ensembl
Innerchr16:70190751..70196049hg19UCSC Ensembl
Outerchr16:70188751..70198049hg19UCSC Ensembl
chr16:68747252..68754550hg18UCSC Ensembl
Innerchr16:68748252..68753550hg18UCSC Ensembl
Outerchr16:68746252..68755550hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387299
hg197299
hg187299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3445572
Supporting Variants
SamplesNA19238
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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