A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12418n54



Internal ID20145842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143574584..143611897hg38UCSC Ensembl
chr8:144656754..144694067hg19UCSC Ensembl
chr8:144727897..144765210hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3837314
hg1937314
hg1837314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612814, nsv612816, nsv612815
Samples
Known GenesEEF1D, NAPRT1, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12418n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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