A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3618n100



Internal ID20155234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48948950..49021211hg38UCSC Ensembl
chr19:49452207..49524468hg19UCSC Ensembl
chr19:54144019..54216280hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3872262
hg1972262
hg1872262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060326, nsv1057463
Samples
Known GenesBAX, FTL, GYS1, LHB, LOC101059948, MIR6798, RUVBL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3618n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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