A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6279n54



Internal ID18998455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14090150..14093323hg38UCSC Ensembl
chr19:14200962..14204135hg19UCSC Ensembl
chr19:14061962..14065135hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383174
hg193174
hg183174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578660, nsv578662, nsv578659
Samples
Known GenesPRKACA, SAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6279n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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