A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864443



Internal ID13899365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40241416..40241433hg38UCSC Ensembl
Innerchr5:40241387..40241462hg38UCSC Ensembl
Outerchr5:40241370..40241479hg38UCSC Ensembl
chr5:40241518..40241535hg19UCSC Ensembl
Innerchr5:40241489..40241564hg19UCSC Ensembl
Outerchr5:40241472..40241581hg19UCSC Ensembl
chr5:40277275..40277292hg18UCSC Ensembl
Innerchr5:40277321..40277246hg18UCSC Ensembl
Outerchr5:40277229..40277338hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363779
Supporting Variants
SamplesNA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864443
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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