A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14650392



Internal ID4652208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133059578..133181486hg38UCSC Ensembl
chr12:133636164..133758072hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38121909
hg19121909
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631327
Supporting Variants
SamplesHG00108
Known GenesZNF10, ZNF140, ZNF268, ZNF84, ZNF891
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14650392
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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