A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735969



Internal ID14420013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72802303..72803761hg38UCSC Ensembl
Outerchr14:72802103..72803961hg38UCSC Ensembl
Innerchr14:73269011..73270469hg19UCSC Ensembl
Outerchr14:73268811..73270669hg19UCSC Ensembl
Innerchr14:72338764..72340222hg18UCSC Ensembl
Outerchr14:72338564..72340422hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381859
hg191859
hg181859
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303051
Supporting Variants
SamplesNA18909
Known GenesDPF3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735969
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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