A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407434



Internal ID15254396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40205215..40207113hg38UCSC Ensembl
Innerchr13:40206113..40206215hg38UCSC Ensembl
Outerchr13:40204215..40208113hg38UCSC Ensembl
chr13:40779352..40781250hg19UCSC Ensembl
Innerchr13:40780250..40780352hg19UCSC Ensembl
Outerchr13:40778352..40782250hg19UCSC Ensembl
chr13:39677352..39679250hg18UCSC Ensembl
Innerchr13:39678352..39678250hg18UCSC Ensembl
Outerchr13:39676352..39680250hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688946
SamplesNA19239
Known GenesLINC00548
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407434
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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