A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690414



Internal ID13730952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70150848..70153746hg38UCSC Ensembl
Innerchr16:70151848..70152746hg38UCSC Ensembl
Outerchr16:70149848..70154746hg38UCSC Ensembl
chr16:70184751..70187649hg19UCSC Ensembl
Innerchr16:70185751..70186649hg19UCSC Ensembl
Outerchr16:70183751..70188649hg19UCSC Ensembl
chr16:68742252..68745150hg18UCSC Ensembl
Innerchr16:68743252..68744150hg18UCSC Ensembl
Outerchr16:68741252..68746150hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3348468
Supporting Variants
SamplesNA12892
Known GenesPDPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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