A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630765



Internal ID6670899
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv304e214
Supporting Variantsessv14604433, essv14604432, essv14604434, essv14604435
SamplesHG01624, HG01372, HG01524, HG00133
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630765
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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