A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2503n54



Internal ID22770398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33371147..34703445hg38UCSC Ensembl
chr12:33524082..34856380hg19UCSC Ensembl
chr12:33415349..34747647hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381332299
hg191332299
hg181332299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558294, nsv558251, nsv558253, nsv558254, nsv558250, nsv558252
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2503n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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