A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306216



Internal ID15153164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154880910..154880911hg38UCSC Ensembl
Innerchr5:154880866..154880955hg38UCSC Ensembl
Outerchr5:154880865..154880956hg38UCSC Ensembl
chr5:154260470..154260471hg19UCSC Ensembl
Innerchr5:154260426..154260515hg19UCSC Ensembl
Outerchr5:154260425..154260516hg19UCSC Ensembl
chr5:154240663..154240664hg18UCSC Ensembl
Innerchr5:154240708..154240619hg18UCSC Ensembl
Outerchr5:154240618..154240709hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747964, essv7753346
SamplesNA19099, NA19225
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306216
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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