A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1563n100



Internal ID22787650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118647391..118781854hg38UCSC Ensembl
chr12:119085196..119219659hg19UCSC Ensembl
chr12:117569579..117704042hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38134464
hg19134464
hg18134464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045363, nsv1039515
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)dgv1563n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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