A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8852n54



Internal ID22776747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196968637..196969810hg38UCSC Ensembl
chr3:196695508..196696681hg19UCSC Ensembl
chr3:198179905..198181078hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381174
hg191174
hg181174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593092, nsv593101, nsv593093, nsv593100, nsv593102, nsv593097, nsv593099
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8852n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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