A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305038



Internal ID15151986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76376753..76376754hg38UCSC Ensembl
Innerchr11:76376722..76376785hg38UCSC Ensembl
Outerchr11:76376721..76376786hg38UCSC Ensembl
chr11:76087797..76087798hg19UCSC Ensembl
Innerchr11:76087766..76087829hg19UCSC Ensembl
Outerchr11:76087765..76087830hg19UCSC Ensembl
chr11:75765445..75765446hg18UCSC Ensembl
Innerchr11:75765477..75765414hg18UCSC Ensembl
Outerchr11:75765413..75765478hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752777, essv7751501, essv7747118, essv7753984
SamplesNA18507, NA19114, NA18853, NA18505
Known GenesPRKRIR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305038
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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