A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411800



Internal ID14912073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99385397..99387495hg38UCSC Ensembl
Innerchr13:99386397..99386495hg38UCSC Ensembl
Outerchr13:99384397..99388495hg38UCSC Ensembl
chr13:100037651..100039749hg19UCSC Ensembl
Innerchr13:100038651..100038749hg19UCSC Ensembl
Outerchr13:100036651..100040749hg19UCSC Ensembl
chr13:98835652..98837750hg18UCSC Ensembl
Innerchr13:98836652..98836750hg18UCSC Ensembl
Outerchr13:98834652..98838750hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689014
SamplesNA19239
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411800
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer