A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397613



Internal ID15244576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76376748..76376768hg38UCSC Ensembl
Innerchr11:76376752..76376762hg38UCSC Ensembl
Outerchr11:76376732..76376784hg38UCSC Ensembl
chr11:76087792..76087812hg19UCSC Ensembl
Innerchr11:76087796..76087806hg19UCSC Ensembl
Outerchr11:76087776..76087828hg19UCSC Ensembl
chr11:75765440..75765460hg18UCSC Ensembl
Innerchr11:75765454..75765444hg18UCSC Ensembl
Outerchr11:75765424..75765476hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8953570, essv8953568, essv8953569, essv8953572
SamplesNA18507, NA19114, NA18853, NA18505
Known GenesPRKRIR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397613
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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