A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12444n54



Internal ID19004620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144532947..144545770hg38UCSC Ensembl
chr8:145758331..145771154hg19UCSC Ensembl
chr8:145729139..145741962hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3812824
hg1912824
hg1812824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612966, nsv612967
Samples
Known GenesARHGAP39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12444n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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