A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2187n100



Internal ID22788274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..20773569hg38UCSC Ensembl
chr15:20203949..20978898hg19UCSC Ensembl
chr15:18463963..19238943hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38774874
hg19774950
hg18774981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042178, nsv1035498, nsv1042582, nsv1052018, nsv1039311, nsv1051833, nsv1044062, nsv1054947, nsv1050525, nsv1048159, nsv1035501, nsv1043436
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)dgv2187n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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