A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3557n100



Internal ID22789644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42758818..43199340hg38UCSC Ensembl
chr19:43262970..43703492hg19UCSC Ensembl
chr19:47954810..48395332hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38440523
hg19440523
hg18440523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056866, nsv1057735, nsv1063621, nsv1063388, nsv1061203, nsv1065396, nsv1062869, nsv1064608
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, 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)dgv3557n100
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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