A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv119n54



Internal ID20133543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12792599..12827689hg38UCSC Ensembl
chr1:12852748..12887549hg19UCSC Ensembl
chr1:12775335..12810136hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3835091
hg1934802
hg1834802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545460, nsv545458
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv119n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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