A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv130n100



Internal ID19010498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18250616..18275404hg38UCSC Ensembl
chr1:18577110..18601898hg19UCSC Ensembl
chr1:18449697..18474485hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3824789
hg1924789
hg1824789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011251, nsv1011048
Samples
Known GenesIGSF21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv130n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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