A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448450



Internal ID14948713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62539280..62539280hg38UCSC Ensembl
Innerchr11:62539279..62539281hg38UCSC Ensembl
Outerchr11:62539230..62539330hg38UCSC Ensembl
chr11:62306752..62306752hg19UCSC Ensembl
Innerchr11:62306751..62306753hg19UCSC Ensembl
Outerchr11:62306702..62306802hg19UCSC Ensembl
chr11:62063328..62063328hg18UCSC Ensembl
Innerchr11:62063329..62063327hg18UCSC Ensembl
Outerchr11:62063278..62063378hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740733
SamplesNA19240
Known GenesAHNAK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448450
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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