A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616316



Internal ID6656513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13567359..13968374hg38UCSC Ensembl
chr8:13424868..13825883hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38401016
hg19401016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13113968
SamplesHG02494
Known GenesC8orf48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616316
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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