A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv416n100



Internal ID22786503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152545369..152583926hg38UCSC Ensembl
chr1:152517845..152556402hg19UCSC Ensembl
chr1:150784469..150823026hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3838558
hg1938558
hg1838558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003895, nsv1000403, nsv1008009, nsv999353
Samples
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv416n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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