A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv509n54



Internal ID22768404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111384821..111393760hg38UCSC Ensembl
chr1:111927443..111936382hg19UCSC Ensembl
chr1:111728966..111737905hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388940
hg198940
hg188940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547539, nsv547545
Samples
Known GenesPGCP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv509n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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