A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7739067



Internal ID14830564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113558663..113558664hg38UCSC Ensembl
Outerchr4:113558493..113558835hg38UCSC Ensembl
Innerchr4:114479819..114479820hg19UCSC Ensembl
Outerchr4:114479649..114479991hg19UCSC Ensembl
Innerchr4:114699269..114699268hg18UCSC Ensembl
Outerchr4:114699098..114699440hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38343
hg19343
hg18343
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303071
Supporting Variants
SamplesNA19099
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7739067
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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