A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302763



Internal ID15149711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57644613..57644949hg38UCSC Ensembl
Innerchr16:57644713..57644849hg38UCSC Ensembl
Outerchr16:57644513..57645049hg38UCSC Ensembl
chr16:57678525..57678861hg19UCSC Ensembl
Innerchr16:57678625..57678761hg19UCSC Ensembl
Outerchr16:57678425..57678961hg19UCSC Ensembl
chr16:56236026..56236362hg18UCSC Ensembl
Innerchr16:56236126..56236262hg18UCSC Ensembl
Outerchr16:56235926..56236462hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38337
hg19337
hg18337
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736295, essv7735330, essv7739095, essv7732569
SamplesNA18502, NA11894, NA19099, NA19108
Known GenesGPR56
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302763
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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