A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2189n100



Internal ID22788276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..21096875hg38UCSC Ensembl
chr15:20203949..21302204hg19UCSC Ensembl
chr15:18463963..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381098180
hg191098256
hg181102901
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048245, nsv1041809, nsv1043657, nsv1044156, nsv1044813, nsv1048362, nsv1044393, nsv1042184, nsv1036098, nsv1049024, nsv1036823, nsv1039565, nsv1052765, nsv1039193
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)dgv2189n100
Frequency
Sample Size11257
Observed Gain48
Observed Loss22
Observed Complex0
Frequencyn/a


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