A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1497n100



Internal ID22787584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49284746..49438835hg38UCSC Ensembl
chr12:49678529..49832618hg19UCSC Ensembl
chr12:47964796..48118885hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38154090
hg19154090
hg18154090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039176, nsv1042122
Samples
Known GenesC1QL4, DNAJC22, LOC100335030, PRPH, SPATS2, TROAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1497n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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