A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417966



Internal ID14918238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114553107..114553752hg38UCSC Ensembl
Innerchr11:114553157..114553702hg38UCSC Ensembl
Outerchr11:114553057..114553802hg38UCSC Ensembl
chr11:114423829..114424474hg19UCSC Ensembl
Innerchr11:114423879..114424424hg19UCSC Ensembl
Outerchr11:114423779..114424524hg19UCSC Ensembl
chr11:113929039..113929684hg18UCSC Ensembl
Innerchr11:113929089..113929634hg18UCSC Ensembl
Outerchr11:113928989..113929734hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38646
hg19646
hg18646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740714
SamplesNA19240
Known GenesNXPE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417966
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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