A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5385n100



Internal ID20157001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127882004..128173863hg38UCSC Ensembl
chr4:128803159..129095018hg19UCSC Ensembl
chr4:129022609..129314468hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38291860
hg19291860
hg18291860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029890, nsv1033701, nsv1018952
Samples
Known GenesC4orf29, LARP1B, MFSD8, PLK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5385n100
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