A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8851n54



Internal ID22776746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196968637..196969752hg38UCSC Ensembl
chr3:196695508..196696623hg19UCSC Ensembl
chr3:198179905..198181020hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593091, nsv593098
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8851n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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