A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3572n100



Internal ID22789659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42790226..43285762hg38UCSC Ensembl
chr19:43294378..43789914hg19UCSC Ensembl
chr19:47986218..48481754hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38495537
hg19495537
hg18495537
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062897, nsv1063939, nsv1061027, nsv1066512, nsv1063294, nsv1059888
Samples
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3572n100
Frequency
Sample Size11257
Observed Gain19
Observed Loss83
Observed Complex0
Frequencyn/a


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