A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2200n100



Internal ID22788287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20056971..20538504hg38UCSC Ensembl
chr15:20262224..20743782hg19UCSC Ensembl
chr15:18522238..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38481534
hg19481559
hg18481559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041664, nsv1044594, nsv1036628, nsv1048035
Samples
Known GenesCHEK2P2, GOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2200n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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