A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3587n100



Internal ID20155203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43044850..43282526hg38UCSC Ensembl
chr19:43549002..43786678hg19UCSC Ensembl
chr19:48240842..48478518hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38237677
hg19237677
hg18237677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064255, nsv1066543, nsv1063491, nsv1059464, nsv1058607, nsv1056404
Samples
Known GenesLOC284344, PSG2, PSG4, PSG5, PSG9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3587n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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