A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv591n100



Internal ID20152207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236442533..236626827hg38UCSC Ensembl
chr1:236605833..236790127hg19UCSC Ensembl
chr1:234672456..234856750hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38184295
hg19184295
hg18184295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998581, nsv1006798, nsv1000668, nsv1014662
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv591n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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