A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1414n100



Internal ID20153030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30949950..30984205hg38UCSC Ensembl
chr12:31102884..31137140hg19UCSC Ensembl
chr12:30994151..31028407hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3834256
hg1934257
hg1834257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046132, nsv1050758, nsv1039683
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)dgv1414n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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