A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1409n100



Internal ID22787496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30135946..30183553hg38UCSC Ensembl
chr12:30288879..30336486hg19UCSC Ensembl
chr12:30180146..30227753hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3847608
hg1947608
hg1847608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050757, nsv1035561
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1409n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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