A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3617n100



Internal ID19013985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48532114..48643732hg38UCSC Ensembl
chr19:49035371..49146989hg19UCSC Ensembl
chr19:53727183..53838801hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38111619
hg19111619
hg18111619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066568, nsv1055532
Samples
Known GenesCA11, DBP, FAM83E, RPL18, SEC1P, SPACA4, SPHK2, SULT2B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3617n100
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