A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594589



Internal ID6981909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229939628..229952460hg38UCSC Ensembl
chr2:230804344..230817176hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3812833
hg1912833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10873402
SamplesHG00136
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594589
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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