A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293n100



Internal ID20151909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115668435..115699702hg38UCSC Ensembl
chr1:116211056..116242323hg19UCSC Ensembl
chr1:116012579..116043846hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3831268
hg1931268
hg1831268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008967, nsv1005859
Samples
Known GenesVANGL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv293n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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