A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4250n100



Internal ID22790337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14543758..14705651hg38UCSC Ensembl
chr20:14524404..14686297hg19UCSC Ensembl
chr20:14472404..14634297hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38161894
hg19161894
hg18161894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064738, nsv1055188, nsv1063411
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4250n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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