A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302529



Internal ID15149476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154189480..154189533hg38UCSC Ensembl
Innerchr4:154189506..154189506hg38UCSC Ensembl
Outerchr4:154189380..154189633hg38UCSC Ensembl
chr4:155110632..155110685hg19UCSC Ensembl
Innerchr4:155110658..155110658hg19UCSC Ensembl
Outerchr4:155110532..155110785hg19UCSC Ensembl
chr4:155330082..155330135hg18UCSC Ensembl
Innerchr4:155330108..155330108hg18UCSC Ensembl
Outerchr4:155329982..155330235hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731489
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302529
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