A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631215



Internal ID7018027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131005115..131185932hg38UCSC Ensembl
chr12:131489660..131670477hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180818
hg19180818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14639538
SamplesHG01985
Known GenesGPR133, LOC116437
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631215
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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