A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366497



Internal ID14866757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70203999..70204052hg38UCSC Ensembl
Innerchr11:70204011..70204040hg38UCSC Ensembl
Outerchr11:70203958..70204093hg38UCSC Ensembl
chr11:70050105..70050158hg19UCSC Ensembl
Innerchr11:70050117..70050146hg19UCSC Ensembl
Outerchr11:70050064..70050199hg19UCSC Ensembl
chr11:69727753..69727806hg18UCSC Ensembl
Innerchr11:69727794..69727765hg18UCSC Ensembl
Outerchr11:69727712..69727847hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8953476, essv8953475
SamplesNA19093, NA19116
Known GenesFADD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366497
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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