A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326841



Internal ID14827121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171868226..171868240hg38UCSC Ensembl
Innerchr5:171868228..171868238hg38UCSC Ensembl
Outerchr5:171868224..171868242hg38UCSC Ensembl
chr5:171295230..171295244hg19UCSC Ensembl
Innerchr5:171295232..171295242hg19UCSC Ensembl
Outerchr5:171295228..171295246hg19UCSC Ensembl
chr5:171227835..171227849hg18UCSC Ensembl
Innerchr5:171227837..171227847hg18UCSC Ensembl
Outerchr5:171227833..171227851hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864538
SamplesNA12005
Known GenesFBXW11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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