A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3558n100



Internal ID22789645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42764459..43044850hg38UCSC Ensembl
chr19:43268611..43549002hg19UCSC Ensembl
chr19:47960451..48240842hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38280392
hg19280392
hg18280392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060647, nsv1063010, nsv1058701, nsv1064156, nsv1064982, nsv1063440, nsv1066663, nsv1055576, nsv1055404, nsv1063187, nsv1056652, nsv1057853, nsv1056509, nsv1056806, nsv1058211, nsv1063445, nsv1064792, nsv1063190, nsv1063271, nsv1059201, nsv1063887, nsv1062269, nsv1055599, nsv1055776, nsv1060444, nsv1059306, nsv1058522, nsv1062059, nsv1067449, nsv1065795, nsv1059684, nsv1063367, nsv1055674, nsv1055472, nsv1060079, nsv1063435, nsv1059467, nsv1062391
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3558n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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