A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv585n100



Internal ID20152201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234254426..234483126hg38UCSC Ensembl
chr1:234390172..234618872hg19UCSC Ensembl
chr1:232456795..232685495hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38228701
hg19228701
hg18228701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007006, nsv1005270
Samples
Known GenesCOA6, MIR4671, SLC35F3, TARBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv585n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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