A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12427n54



Internal ID22780322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143615483..143632493hg38UCSC Ensembl
chr8:144697653..144714663hg19UCSC Ensembl
chr8:144768796..144785806hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3817011
hg1917011
hg1817011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612873, nsv612857, nsv612865, nsv612868, nsv612856, nsv612872, nsv612875, nsv612871, nsv612876, nsv612852, nsv612860, nsv612867, nsv612862, nsv612854, nsv612866, nsv612861, nsv612874, nsv612864, nsv612851, nsv612855
Samples
Known GenesTSTA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12427n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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