A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415331



Internal ID15262290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112252419..112255317hg38UCSC Ensembl
Innerchr11:112253419..112254317hg38UCSC Ensembl
Outerchr11:112251419..112256317hg38UCSC Ensembl
chr11:112123142..112126040hg19UCSC Ensembl
Innerchr11:112124142..112125040hg19UCSC Ensembl
Outerchr11:112122142..112127040hg19UCSC Ensembl
chr11:111628352..111631250hg18UCSC Ensembl
Innerchr11:111629352..111630250hg18UCSC Ensembl
Outerchr11:111627352..111632250hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688162
SamplesNA19239
Known GenesPLET1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415331
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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