A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347972



Internal ID15194954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68866037..68866337hg38UCSC Ensembl
Innerchr14:68866036..68866338hg38UCSC Ensembl
Outerchr14:68865927..68866457hg38UCSC Ensembl
chr14:69332754..69333054hg19UCSC Ensembl
Innerchr14:69332753..69333055hg19UCSC Ensembl
Outerchr14:69332644..69333174hg19UCSC Ensembl
chr14:68402507..68402807hg18UCSC Ensembl
Innerchr14:68402808..68402506hg18UCSC Ensembl
Outerchr14:68402397..68402927hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808688
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347972
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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