A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1756n100



Internal ID19012124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18497136..19424960hg38UCSC Ensembl
chr14:19273613..20010901hg19UCSC Ensembl
chr14:18343613..19080901hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38927825
hg19737289
hg18737289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050849, nsv1048600, nsv1050069
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, 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)dgv1756n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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