A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6795n100



Internal ID20158411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:590949..770491hg38UCSC Ensembl
chr8:540949..720491hg19UCSC Ensembl
chr8:530949..710491hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38179543
hg19179543
hg18179543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032470, nsv1021384, nsv1029208
Samples
Known GenesERICH1, ERICH1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6795n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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