A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688956



Internal ID15087558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42399116..42402214hg38UCSC Ensembl
Innerchr13:42400116..42401214hg38UCSC Ensembl
Outerchr13:42398116..42403214hg38UCSC Ensembl
chr13:42973252..42976350hg19UCSC Ensembl
Innerchr13:42974252..42975350hg19UCSC Ensembl
Outerchr13:42972252..42977350hg19UCSC Ensembl
chr13:41871252..41874350hg18UCSC Ensembl
Innerchr13:41872252..41873350hg18UCSC Ensembl
Outerchr13:41870252..41875350hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331527
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688956
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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