A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2186n100



Internal ID22788273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..20688370hg38UCSC Ensembl
chr15:20203949..20893699hg19UCSC Ensembl
chr15:18463963..19153713hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38689675
hg19689751
hg18689751
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046661, nsv1035876, nsv1045254, nsv1051596, nsv1041199, nsv1036203
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2186n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer