A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3219n54



Internal ID22771114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66524243..66595346hg38UCSC Ensembl
chr13:67098375..67169478hg19UCSC Ensembl
chr13:65996376..66067479hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3871104
hg1971104
hg1871104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562098, nsv562099, nsv562101
SamplesHGDP00080, HGDP00037, HGDP00070, HGDP00736
Known GenesPCDH9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3219n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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