A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303071



Internal ID15150019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113558592..113558735hg38UCSC Ensembl
Innerchr4:113558663..113558663hg38UCSC Ensembl
Outerchr4:113558492..113558835hg38UCSC Ensembl
chr4:114479748..114479891hg19UCSC Ensembl
Innerchr4:114479819..114479819hg19UCSC Ensembl
Outerchr4:114479648..114479991hg19UCSC Ensembl
chr4:114699197..114699340hg18UCSC Ensembl
Innerchr4:114699268..114699268hg18UCSC Ensembl
Outerchr4:114699097..114699440hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739067, essv7738047, essv7732557, essv7732464
SamplesNA18861, NA18486, NA19099, NA19108
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303071
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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