A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8920311



Internal ID14089740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113501293..113501304hg38UCSC Ensembl
Innerchr4:113501286..113501311hg38UCSC Ensembl
Outerchr4:113501275..113501322hg38UCSC Ensembl
chr4:114422449..114422460hg19UCSC Ensembl
Innerchr4:114422442..114422467hg19UCSC Ensembl
Outerchr4:114422431..114422478hg19UCSC Ensembl
chr4:114641898..114641909hg18UCSC Ensembl
Innerchr4:114641916..114641891hg18UCSC Ensembl
Outerchr4:114641880..114641927hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3340807
Supporting Variants
SamplesNA18562
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8920311
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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