A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12067n54



Internal ID19004243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25211395..25213120hg38UCSC Ensembl
chr8:25068911..25070636hg19UCSC Ensembl
chr8:25124828..25126553hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610830, nsv610826
Samples
Known GenesDOCK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12067n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss244
Observed Complex0
Frequencyn/a


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