A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19n100



Internal ID20151635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12746824..12802189hg38UCSC Ensembl
chr1:12806772..12862325hg19UCSC Ensembl
chr1:12729359..12784912hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3855366
hg1955554
hg1855554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008869, nsv1000875, nsv1001619, nsv1005569
Samples
Known GenesC1orf158, PRAMEF1, PRAMEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv19n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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