A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3613n100



Internal ID19013981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48220413..48256972hg38UCSC Ensembl
chr19:48723670..48760229hg19UCSC Ensembl
chr19:53415482..53452041hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3836560
hg1936560
hg1836560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057953, nsv1058714, nsv1057545, nsv1066167
Samples
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3613n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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