A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340807



Internal ID15187794
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8920312, essv8920322, essv8920321, essv8920307, essv8920308, essv8920316, essv8920309, essv8920319, essv8920310, essv8920313, essv8920315, essv8920323, essv8920317, essv8920311, essv8920320, essv8920318
SamplesNA18947, NA12045, NA18545, NA18526, NA07357, NA18582, NA18964, NA18638, NA18579, NA18948, NA18537, NA18945, NA18564, NA18552, NA18562, NA18577
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340807
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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