A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630269



Internal ID7017088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86712913..86780071hg38UCSC Ensembl
chr12:87106690..87173848hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3867159
hg1967159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14560654, essv14560655
SamplesHG04164, HG03809
Known GenesMGAT4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630269
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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