A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447688



Internal ID14947951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89428843..89430641hg38UCSC Ensembl
Innerchr16:89429641..89429843hg38UCSC Ensembl
Outerchr16:89427843..89431641hg38UCSC Ensembl
chr16:89495251..89497049hg19UCSC Ensembl
Innerchr16:89496049..89496251hg19UCSC Ensembl
Outerchr16:89494251..89498049hg19UCSC Ensembl
chr16:88022752..88024550hg18UCSC Ensembl
Innerchr16:88023752..88023550hg18UCSC Ensembl
Outerchr16:88021752..88025550hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1665e59
Supporting Variantsessv8690491
SamplesNA19240
Known GenesANKRD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447688
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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