A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv478n100



Internal ID22786565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184694764..184746061hg38UCSC Ensembl
chr1:184663898..184715195hg19UCSC Ensembl
chr1:182930521..182981818hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3851298
hg1951298
hg1851298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010371, nsv1001244
Samples
Known GenesEDEM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv478n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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