A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1758n100



Internal ID22787845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18559262..19289336hg38UCSC Ensembl
chr14:19335739..19877060hg19UCSC Ensembl
chr14:18405739..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38730075
hg19541322
hg18541322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035188, nsv1038926, nsv1044959, nsv1049354, nsv1049512, nsv1041966, nsv1042795, nsv1045168
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)dgv1758n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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