A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630909



Internal ID6671042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119587649..119641066hg38UCSC Ensembl
chr12:120025454..120078871hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3853418
hg1953418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14616122
SamplesHG04183
Known GenesTMEM233
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630909
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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