A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1294n100



Internal ID20152910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125207472..125221672hg38UCSC Ensembl
chr11:125077368..125091568hg19UCSC Ensembl
chr11:124582578..124596778hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3814201
hg1914201
hg1814201
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039214, nsv1040000
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1294n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss8
Observed Complex0
Frequencyn/a


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