A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5002n100



Internal ID20156618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185129229..185287036hg38UCSC Ensembl
chr3:184847017..185004824hg19UCSC Ensembl
chr3:186329711..186487518hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38157808
hg19157808
hg18157808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998734, nsv999655
Samples
Known GenesC3orf70, EHHADH, EHHADH-AS1, MAP3K13, MIR5588
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5002n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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