A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428782



Internal ID15275738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75540615..75545613hg38UCSC Ensembl
Innerchr13:75541615..75544613hg38UCSC Ensembl
Outerchr13:75539615..75546613hg38UCSC Ensembl
chr13:76114751..76119749hg19UCSC Ensembl
Innerchr13:76115751..76118749hg19UCSC Ensembl
Outerchr13:76113751..76120749hg19UCSC Ensembl
chr13:75012752..75017750hg18UCSC Ensembl
Innerchr13:75013752..75016750hg18UCSC Ensembl
Outerchr13:75011752..75018750hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg384999
hg194999
hg184999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1049e59
Supporting Variantsessv8689001
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428782
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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