A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8724n54



Internal ID20142148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:165721745..165840684hg38UCSC Ensembl
chr3:165439533..165558472hg19UCSC Ensembl
chr3:166922227..167041166hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38118940
hg19118940
hg18118940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592480, nsv592481
Samples
Known GenesBCHE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8724n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer