A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383148



Internal ID15230119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13016363..13016508hg38UCSC Ensembl
Innerchr11:13016423..13016448hg38UCSC Ensembl
Outerchr11:13016278..13016593hg38UCSC Ensembl
chr11:13037910..13038055hg19UCSC Ensembl
Innerchr11:13037970..13037995hg19UCSC Ensembl
Outerchr11:13037825..13038140hg19UCSC Ensembl
chr11:12994486..12994631hg18UCSC Ensembl
Innerchr11:12994571..12994546hg18UCSC Ensembl
Outerchr11:12994401..12994716hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670493, essv8670495, essv8670494, essv8670496
SamplesNA19238, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383148
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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