A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1749n100



Internal ID20153365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18225635..19169707hg38UCSC Ensembl
chr14:19002112..19790343hg19UCSC Ensembl
chr14:18072112..18860343hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38944073
hg19788232
hg18788232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055077, nsv1040404, nsv1050303, nsv1042816, nsv1054768, nsv1048651, nsv1049474
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1749n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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