A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093042



Internal ID5094858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89618440..89955557hg38UCSC Ensembl
chr14:90084784..90421901hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38337118
hg19337118
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635297
Supporting Variants
SamplesNA06984
Known GenesEFCAB11, FOXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093042
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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