A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1748n100



Internal ID20153364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114258491..114323871hg38UCSC Ensembl
chr13:115023966..115089346hg19UCSC Ensembl
chr13:114042068..114107448hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3865381
hg1965381
hg1865381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048252, nsv1046000
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1748n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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