A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630764



Internal ID6670898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111742954..111877939hg38UCSC Ensembl
Innerchr12:111743104..111877789hg38UCSC Ensembl
Outerchr12:111742804..111878089hg38UCSC Ensembl
chr12:112180758..112315743hg19UCSC Ensembl
Innerchr12:112180908..112315593hg19UCSC Ensembl
Outerchr12:112180608..112315893hg19UCSC 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 Variantsdgv304e214
Supporting Variantsessv14604424, essv14604425, essv14604427, essv14604426, essv14604431, essv14604430, essv14604428, essv14604429
SamplesHG01624, HG01372, NA20759, HG01524, HG00133, HG02322, HG00623, HG01357
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630764
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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