A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14477276



Internal ID4479092
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629454
Supporting Variants
SamplesNA20795
Known GenesPRPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14477276
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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