A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427338



Internal ID14927608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30253930..30280828hg38UCSC Ensembl
Innerchr16:30254930..30279828hg38UCSC Ensembl
Outerchr16:30252930..30281828hg38UCSC Ensembl
chr16:30265251..30292149hg19UCSC Ensembl
Innerchr16:30266251..30291149hg19UCSC Ensembl
Outerchr16:30264251..30293149hg19UCSC Ensembl
chr16:30172752..30199650hg18UCSC Ensembl
Innerchr16:30173752..30198650hg18UCSC Ensembl
Outerchr16:30171752..30200650hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3826899
hg1926899
hg1826899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689960
SamplesNA19239
Known GenesLOC440354, LOC595101
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427338
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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