A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568890



Internal ID2094123
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630373
Supporting Variants
SamplesHG01896
Known GenesC12orf79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568890
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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