A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688517



Internal ID15044521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76267660..76269358hg38UCSC Ensembl
Innerchr11:76268358..76268660hg38UCSC Ensembl
Outerchr11:76266660..76270358hg38UCSC Ensembl
chr11:75978704..75980402hg19UCSC Ensembl
Innerchr11:75979402..75979704hg19UCSC Ensembl
Outerchr11:75977704..75981402hg19UCSC Ensembl
chr11:75656352..75658050hg18UCSC Ensembl
Innerchr11:75657352..75657050hg18UCSC Ensembl
Outerchr11:75655352..75659050hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431387
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688517
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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