A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328668



Internal ID14828946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66563127..66563155hg38UCSC Ensembl
Innerchr14:66563137..66563143hg38UCSC Ensembl
Outerchr14:66563109..66563171hg38UCSC Ensembl
chr14:67029845..67029873hg19UCSC Ensembl
Innerchr14:67029855..67029861hg19UCSC Ensembl
Outerchr14:67029827..67029889hg19UCSC Ensembl
chr14:66099598..66099626hg18UCSC Ensembl
Innerchr14:66099614..66099608hg18UCSC Ensembl
Outerchr14:66099580..66099642hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8966764, essv8966763
SamplesNA18542, NA18973
Known GenesGPHN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328668
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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