A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7127n100



Internal ID19017495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18986188..19001299hg38UCSC Ensembl
chr8:18843698..18858809hg19UCSC Ensembl
chr8:18887978..18903089hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3815112
hg1915112
hg1815112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015865, nsv1025579
Samples
Known GenesPSD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7127n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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