A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303051



Internal ID15149999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72802202..72803861hg38UCSC Ensembl
Innerchr14:72802302..72803761hg38UCSC Ensembl
Outerchr14:72802102..72803961hg38UCSC Ensembl
chr14:73268910..73270569hg19UCSC Ensembl
Innerchr14:73269010..73270469hg19UCSC Ensembl
Outerchr14:73268810..73270669hg19UCSC Ensembl
chr14:72338663..72340322hg18UCSC Ensembl
Innerchr14:72338763..72340222hg18UCSC Ensembl
Outerchr14:72338563..72340422hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381660
hg191660
hg181660
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735969
SamplesNA18909
Known GenesDPF3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303051
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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