A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3562n100



Internal ID22789649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42776064..42879062hg38UCSC Ensembl
chr19:43280216..43383214hg19UCSC Ensembl
chr19:47972056..48075054hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38102999
hg19102999
hg18102999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065255, nsv1058630, nsv1056481, nsv1058229, nsv1057938, nsv1066700, nsv1063216, nsv1065263, nsv1067528, nsv1060426, nsv1059930, nsv1067088, nsv1058926
Samples
Known GenesLOC100289650, PSG1, PSG10P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3562n100
Frequency
Sample Size11257
Observed Gain53
Observed Loss0
Observed Complex0
Frequencyn/a


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