A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629454



Internal ID7016276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49281650..49298379hg38UCSC Ensembl
chr12:49675433..49692162hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3816730
hg1916730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv274e214
Supporting Variantsessv14477275, essv14477267, essv14477276, essv14477268, essv14477270, essv14477272, essv14477266, essv14477264, essv14477271, essv14477274, essv14477269, essv14477265, essv14477273
SamplesNA12750, NA20795, HG01761, HG01198, HG01323, HG01615, HG01700, HG00375, HG01756, HG01776, NA11832, HG00255, NA19676
Known GenesPRPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629454
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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