A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2217n100



Internal ID22788304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20217113..20644294hg38UCSC Ensembl
chr15:20422366..20849596hg19UCSC Ensembl
chr15:18682380..19109610hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38427182
hg19427231
hg18427231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047895, nsv1039437, nsv1052331, nsv1042916, nsv1046866, nsv1046940, nsv1036057, nsv1040819, nsv1047321, nsv1039500
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2217n100
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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