A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv304e214



Internal ID18980479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111742954..111877939hg38UCSC Ensembl
chr12:112180758..112315743hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38134986
hg19134986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630765, esv3630764
SamplesHG01357, HG01372, HG01624, NA20759, HG01524, HG02322, HG00133, HG00623
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv304e214
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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