A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12438n54



Internal ID20145862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144435160..144452441hg38UCSC Ensembl
chr8:145660543..145677824hg19UCSC Ensembl
chr8:145631351..145648632hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3817282
hg1917282
hg1817282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612938, nsv612939
Samples
Known GenesCYHR1, LOC100287098, MIR6893, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12438n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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