A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3270n54



Internal ID22771165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78601267..78610572hg38UCSC Ensembl
chr13:79175402..79184707hg19UCSC Ensembl
chr13:78073403..78082708hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg389306
hg199306
hg189306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562415, nsv562414
Samples
Known GenesPOU4F1, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3270n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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