A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2182n100



Internal ID22788269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19981386..21096875hg38UCSC Ensembl
chr15:20186639..21302204hg19UCSC Ensembl
chr15:18446653..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381115490
hg191115566
hg181120211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044309, nsv1046895, nsv1038082, nsv1043461, nsv1038468, nsv1054511, nsv1038143, nsv1038174, nsv1051759, nsv1052554, nsv1036975, nsv1037328, nsv1051434, nsv1051934, nsv1043007, nsv1048994, nsv1052104, nsv1042617, nsv1049028, nsv1038092, nsv1048371, nsv1037342, nsv1048222, nsv1048845, nsv1039456, nsv1043060, nsv1035425, nsv1035290, nsv1051174, nsv1046174, nsv1050648, nsv1041002, nsv1039371, nsv1039764, nsv1042865, nsv1037241
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2182n100
Frequency
Sample Size11257
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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