A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1744n100



Internal ID20153360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113384831..113442576hg38UCSC Ensembl
chr13:114039146..114096891hg19UCSC Ensembl
chr13:113087147..113144892hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3857746
hg1957746
hg1857746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042419, nsv1047076, nsv1045543
Samples
Known GenesADPRHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1744n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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