A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327694



Internal ID14827973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19739353..19749851hg38UCSC Ensembl
Innerchr14:19740353..19748851hg38UCSC Ensembl
Outerchr14:19738353..19750851hg38UCSC Ensembl
chr14:20207512..20218010hg19UCSC Ensembl
Innerchr14:20208512..20217010hg19UCSC Ensembl
Outerchr14:20206512..20219010hg19UCSC Ensembl
chr14:19277352..19287850hg18UCSC Ensembl
Innerchr14:19278352..19286850hg18UCSC Ensembl
Outerchr14:19276352..19288850hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810499
hg1910499
hg1810499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689430
SamplesNA19239
Known GenesOR4Q3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327694
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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