A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1799n100



Internal ID20153415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20872480..20941810hg38UCSC Ensembl
chr14:21340639..21409969hg19UCSC Ensembl
chr14:20410479..20479809hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3869331
hg1969331
hg1869331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053464, nsv1038895, nsv1049609, nsv1052371, nsv1045451
Samples
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1799n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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