A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2226n100



Internal ID22788313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20267586..20422227hg38UCSC Ensembl
chr15:20472839..20627480hg19UCSC Ensembl
chr15:18732853..18887494hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38154642
hg19154642
hg18154642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042847, nsv1045480, nsv1044487, nsv1044335, nsv1046249
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2226n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss8
Observed Complex0
Frequencyn/a


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