A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689039



Internal ID15049763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105229570..105238368hg38UCSC Ensembl
Innerchr14:105230570..105237368hg38UCSC Ensembl
Outerchr14:105228570..105239368hg38UCSC Ensembl
chr14:105695907..105704705hg19UCSC Ensembl
Innerchr14:105696907..105703705hg19UCSC Ensembl
Outerchr14:105694907..105705705hg19UCSC Ensembl
chr14:104766952..104775750hg18UCSC Ensembl
Innerchr14:104767952..104774750hg18UCSC Ensembl
Outerchr14:104765952..104776750hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg388799
hg198799
hg188799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359991
Supporting Variants
SamplesNA19239
Known GenesBRF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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