A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653146



Internal ID13388205
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 StatusS
Merged Variantsesv3404624
Supporting Variants
SamplesNA12892
Known GenesIL21R, IL21R-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653146
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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