A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2221n100



Internal ID22788308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20235273..20538504hg38UCSC Ensembl
chr15:20440526..20743782hg19UCSC Ensembl
chr15:18700540..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38303232
hg19303257
hg18303257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051224, nsv1040705, nsv1041399, nsv1040691
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)dgv2221n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss5
Observed Complex0
Frequencyn/a


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