A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604434



Internal ID4606250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111743735..111843500hg38UCSC Ensembl
chr12:112181539..112281304hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3899766
hg1999766
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630765
Supporting Variants
SamplesHG01524
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604434
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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