A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1763n100



Internal ID19012131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18639702..19424960hg38UCSC Ensembl
chr14:19416179..20010901hg19UCSC Ensembl
chr14:18486179..19080901hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38785259
hg19594723
hg18594723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041410, nsv1049499, nsv1046756, nsv1043198, nsv1051878
Samples
Known GenesBMS1P17, BMS1P18, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1763n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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