A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12442n54



Internal ID20145866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144492696..144516381hg38UCSC Ensembl
chr8:145718079..145741765hg19UCSC Ensembl
chr8:145688887..145712573hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3823686
hg1923687
hg1823687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612957, nsv612953, nsv612958, nsv612956
Samples
Known GenesGPT, MFSD3, PPP1R16A, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12442n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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