A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635509



Internal ID6675622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100483541..100538057hg38UCSC Ensembl
chr14:100949878..101004394hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3854517
hg1954517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15108047
SamplesNA06984
Known GenesBEGAIN, WDR25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635509
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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