A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1415n100



Internal ID20153031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30962179..30997119hg38UCSC Ensembl
chr12:31115114..31150054hg19UCSC Ensembl
chr12:31006381..31041321hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3834941
hg1934941
hg1834941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050206, nsv1038545
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1415n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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