A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3612n100



Internal ID20155228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48027173..48037765hg38UCSC Ensembl
chr19:48530430..48541022hg19UCSC Ensembl
chr19:53222242..53232834hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3810593
hg1910593
hg1810593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058442, nsv1067487
Samples
Known GenesCABP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3612n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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