A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630908



Internal ID6671041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119581656..119611233hg38UCSC Ensembl
chr12:120019461..120049038hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3829578
hg1929578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14616121
SamplesHG04183
Known GenesTMEM233
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630908
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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