A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631317



Internal ID7018126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132771535..132796367hg38UCSC Ensembl
chr12:133348121..133372953hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824833
hg1924833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649903
SamplesNA18934
Known GenesGOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631317
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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