A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368363



Internal ID14868622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28770730..28772328hg38UCSC Ensembl
Innerchr16:28771328..28771730hg38UCSC Ensembl
Outerchr16:28769730..28773328hg38UCSC Ensembl
chr16:28782051..28783649hg19UCSC Ensembl
Innerchr16:28782649..28783051hg19UCSC Ensembl
Outerchr16:28781051..28784649hg19UCSC Ensembl
chr16:28689552..28691150hg18UCSC Ensembl
Innerchr16:28690552..28690150hg18UCSC Ensembl
Outerchr16:28688552..28692150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689921
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368363
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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