A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11935n54



Internal ID20145359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7846578..7904759hg38UCSC Ensembl
chr8:7704100..7762281hg19UCSC Ensembl
chr8:7741510..7799691hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3858182
hg1958182
hg1858182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610133, nsv610132, nsv610130
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11935n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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