A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634726



Internal ID6674843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63471372..63640065hg38UCSC Ensembl
chr14:63938090..64106783hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38168694
hg19168694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15040285
SamplesHG03048
Known GenesPPP2R5E, WDR89
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634726
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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