A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306963



Internal ID15153911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448065..144448066hg38UCSC Ensembl
Innerchr5:144448032..144448099hg38UCSC Ensembl
Outerchr5:144448031..144448100hg38UCSC Ensembl
chr5:143827628..143827629hg19UCSC Ensembl
Innerchr5:143827595..143827662hg19UCSC Ensembl
Outerchr5:143827594..143827663hg19UCSC Ensembl
chr5:143807821..143807822hg18UCSC Ensembl
Innerchr5:143807855..143807788hg18UCSC Ensembl
Outerchr5:143807787..143807856hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749165, essv7753546, essv7741375, essv7744802
SamplesNA19190, NA18871, NA18856, NA19099
Known GenesKCTD16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306963
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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