A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423131



Internal ID15270089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32925535..32925545hg38UCSC Ensembl
Innerchr5:32925529..32925549hg38UCSC Ensembl
Outerchr5:32925519..32925559hg38UCSC Ensembl
chr5:32925641..32925651hg19UCSC Ensembl
Innerchr5:32925635..32925655hg19UCSC Ensembl
Outerchr5:32925625..32925665hg19UCSC Ensembl
chr5:32961398..32961408hg18UCSC Ensembl
Innerchr5:32961412..32961392hg18UCSC Ensembl
Outerchr5:32961382..32961422hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923817, essv8923828, essv8923810, essv8923815, essv8923818, essv8923821, essv8923808, essv8923827, essv8923807, essv8923822, essv8923816, essv8923826, essv8923820, essv8923812, essv8923813, essv8923819, essv8923824, essv8923823, essv8923809, essv8923811
SamplesNA12717, NA11995, NA18508, NA12045, NA12004, NA18519, NA18489, NA19138, NA12156, NA18516, NA18907, NA18856, NA19099, NA19225, NA18909, NA18501, NA12749, NA18505, NA12006, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423131
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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