A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630951



Internal ID6671084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121629592..121644127hg38UCSC Ensembl
chr12:122067498..122082033hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814536
hg1914536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619296, essv14619295
SamplesNA18541, HG01756
Known GenesORAI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630951
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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