A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369316



Internal ID14869575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29526030..29529528hg38UCSC Ensembl
Innerchr16:29527030..29528528hg38UCSC Ensembl
Outerchr16:29525030..29530528hg38UCSC Ensembl
chr16:29537351..29540849hg19UCSC Ensembl
Innerchr16:29538351..29539849hg19UCSC Ensembl
Outerchr16:29536351..29541849hg19UCSC Ensembl
chr16:29444852..29448350hg18UCSC Ensembl
Innerchr16:29445852..29447350hg18UCSC Ensembl
Outerchr16:29443852..29449350hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689945
SamplesNA19240
Known GenesLOC440354
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369316
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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