A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2194n100



Internal ID22788281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20011690..20647773hg38UCSC Ensembl
chr15:20216943..20853080hg19UCSC Ensembl
chr15:18476957..19113094hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38636084
hg19636138
hg18636138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052413, nsv1054002, nsv1054267, nsv1040500, nsv1047254, nsv1043418
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2194n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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