A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608302



Internal ID6995232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20861405..20928898hg38UCSC Ensembl
chr6:20861636..20929129hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3867494
hg1967494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12218506
SamplesHG00278
Known GenesCDKAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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