A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8565n54



Internal ID22776460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128403977..128469086hg38UCSC Ensembl
chr3:128122820..128187929hg19UCSC Ensembl
chr3:129605510..129670619hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3865110
hg1965110
hg1865110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591600, nsv591597, nsv591601, nsv591598, nsv591599
SamplesHGDP00545
Known GenesDNAJB8, DNAJB8-AS1, EEFSEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8565n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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