A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367176



Internal ID14867435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68898482..68899880hg38UCSC Ensembl
Innerchr14:68898880..68899482hg38UCSC Ensembl
Outerchr14:68897482..68900880hg38UCSC Ensembl
chr14:69365199..69366597hg19UCSC Ensembl
Innerchr14:69365597..69366199hg19UCSC Ensembl
Outerchr14:69364199..69367597hg19UCSC Ensembl
chr14:68434952..68436350hg18UCSC Ensembl
Innerchr14:68435952..68435350hg18UCSC Ensembl
Outerchr14:68433952..68437350hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689488
SamplesNA19240
Known GenesACTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367176
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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