A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753984



Internal ID14342286
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 StatusS
Merged Variantsesv3305038
Supporting Variants
SamplesNA18853
Known GenesPRKRIR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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