A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv118n54



Internal ID20133542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12786855..12827689hg38UCSC Ensembl
chr1:12846998..12887549hg19UCSC Ensembl
chr1:12769585..12810136hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3840835
hg1940552
hg1840552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545455, nsv545459
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv118n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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