A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618268



Internal ID7005150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104004420..104013409hg38UCSC Ensembl
chr8:105016648..105025637hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg388990
hg198990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13272001
SamplesNA19190
Known GenesRIMS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618268
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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