A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631320



Internal ID6671447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132804989..132840886hg38UCSC Ensembl
chr12:133381575..133417472hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3835898
hg1935898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649907
SamplesNA18934
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631320
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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