A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741194



Internal ID15088152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40779232..40779232hg38UCSC Ensembl
Innerchr5:40779231..40779233hg38UCSC Ensembl
Outerchr5:40779182..40779282hg38UCSC Ensembl
chr5:40779334..40779334hg19UCSC Ensembl
Innerchr5:40779333..40779335hg19UCSC Ensembl
Outerchr5:40779284..40779384hg19UCSC Ensembl
chr5:40815091..40815091hg18UCSC Ensembl
Innerchr5:40815092..40815090hg18UCSC Ensembl
Outerchr5:40815041..40815141hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38513
hg19513
hg18513
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3351655
Supporting Variants
SamplesNA19240
Known GenesPRKAA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741194
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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