A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404624



Internal ID14904900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27451338..27451338hg38UCSC Ensembl
Innerchr16:27451337..27451339hg38UCSC Ensembl
Outerchr16:27451288..27451388hg38UCSC Ensembl
chr16:27462659..27462659hg19UCSC Ensembl
Innerchr16:27462658..27462660hg19UCSC Ensembl
Outerchr16:27462609..27462709hg19UCSC Ensembl
chr16:27370160..27370160hg18UCSC Ensembl
Innerchr16:27370161..27370159hg18UCSC Ensembl
Outerchr16:27370110..27370210hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653147, essv8653148, essv8653146
SamplesNA12892, NA12891, NA12878
Known GenesIL21R, IL21R-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404624
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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