A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307556



Internal ID15154504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151953029..151953030hg38UCSC Ensembl
Innerchr5:151952999..151953060hg38UCSC Ensembl
Outerchr5:151952998..151953061hg38UCSC Ensembl
chr5:151332590..151332591hg19UCSC Ensembl
Innerchr5:151332560..151332621hg19UCSC Ensembl
Outerchr5:151332559..151332622hg19UCSC Ensembl
chr5:151312783..151312784hg18UCSC Ensembl
Innerchr5:151312814..151312753hg18UCSC Ensembl
Outerchr5:151312752..151312815hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744502, essv7741753, essv7741511, essv7755853, essv7755693, essv7746473
SamplesNA18502, NA18498, NA18871, NA18858, NA19108, NA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307556
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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