A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv432n100



Internal ID19010800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152777257..152889390hg38UCSC Ensembl
chr1:152749733..152861866hg19UCSC Ensembl
chr1:151016357..151128490hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38112134
hg19112134
hg18112134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999918, nsv1009885
Samples
Known GenesLCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE6A, SMCP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv432n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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