A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331628



Internal ID14831903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48247274..48247675hg38UCSC Ensembl
Innerchr16:48247274..48247675hg38UCSC Ensembl
Outerchr16:48246890..48247923hg38UCSC Ensembl
chr16:48281185..48281586hg19UCSC Ensembl
Innerchr16:48281185..48281586hg19UCSC Ensembl
Outerchr16:48280801..48281834hg19UCSC Ensembl
chr16:46838686..46839087hg18UCSC Ensembl
Innerchr16:46838686..46839087hg18UCSC Ensembl
Outerchr16:46838302..46839335hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38402
hg19402
hg18402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651938
SamplesNA19240
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331628
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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