A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1757n100



Internal ID22787844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18497136..19957338hg38UCSC Ensembl
chr14:19273613..20425497hg19UCSC Ensembl
chr14:18343613..19495337hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381460203
hg191151885
hg181151725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048193, nsv1042197, nsv1037832, nsv1041084, nsv1053640, nsv1053155, nsv1041547, nsv1039502, nsv1053681, nsv1038212, nsv1036591, nsv1036866, nsv1045892, nsv1052084
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, 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)dgv1757n100
Frequency
Sample Size11257
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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