A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv439n100



Internal ID22786526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152789435..152815231hg38UCSC Ensembl
chr1:152761911..152787707hg19UCSC Ensembl
chr1:151028535..151054331hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3825797
hg1925797
hg1825797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010346, nsv1012943
Samples
Known GenesLCE1B, LCE1C, LCE1D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv439n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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