A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630373



Internal ID7017192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92116546..92139749hg38UCSC Ensembl
chr12:92510322..92533525hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3823204
hg1923204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14568890
SamplesHG01896
Known GenesC12orf79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630373
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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