A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2216n100



Internal ID22788303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20210878..20441310hg38UCSC Ensembl
chr15:20416131..20646563hg19UCSC Ensembl
chr15:18676145..18906577hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38230433
hg19230433
hg18230433
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052991, nsv1043275, nsv1039418, nsv1038137, nsv1044213, nsv1047535, nsv1040318, nsv1045548, nsv1036632, nsv1048523
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)dgv2216n100
Frequency
Sample Size11257
Observed Gain32
Observed Loss17
Observed Complex0
Frequencyn/a


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