A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2208n100



Internal ID22788295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20190264..20741749hg38UCSC Ensembl
chr15:20395517..20947078hg19UCSC Ensembl
chr15:18655531..19207088hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38551486
hg19551562
hg18551558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042520, nsv1043750, nsv1052006, nsv1049879, nsv1041914, nsv1045613, nsv1050554, nsv1048470, nsv1036264, nsv1038282, nsv1053409
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2208n100
Frequency
Sample Size11257
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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