A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2197n100



Internal ID22788284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20056971..20418941hg38UCSC Ensembl
chr15:20262224..20624194hg19UCSC Ensembl
chr15:18522238..18884208hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38361971
hg19361971
hg18361971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050283, nsv1044192, nsv1052962, nsv1052203, nsv1055053, nsv1050119, nsv1053738, nsv1051781, nsv1054269, nsv1036217, nsv1048301, nsv1042330, nsv1052662, nsv1050266, nsv1037388, nsv1040739, nsv1042342, nsv1047249, nsv1047933, nsv1035508, nsv1044839
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)dgv2197n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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