A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13054206



Internal ID2858150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:424430..464668hg38UCSC Ensembl
chr8:374430..414668hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3840239
hg1940239
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615786
Supporting Variants
SamplesHG02536
Known GenesFBXO25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13054206
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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