A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615787



Internal ID7002675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:460473..495944hg38UCSC Ensembl
chr8:410473..445944hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3835472
hg1935472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13054209
SamplesNA20520
Known GenesFBXO25, TDRP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615787
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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