A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv429n100



Internal ID22786516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152772473..152806385hg38UCSC Ensembl
chr1:152744949..152778861hg19UCSC Ensembl
chr1:151011573..151045485hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3833913
hg1933913
hg1833913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010924, nsv997705, nsv1009988, nsv1010895, nsv1011430, nsv1001837, nsv998888, nsv1014190
Samples
Known GenesLCE1C, LCE1D, LCE1E, LCE1F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv429n100
Frequency
Sample Size11257
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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