A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12305n54



Internal ID20145729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123883569..123994250hg38UCSC Ensembl
chr8:124895809..125006490hg19UCSC Ensembl
chr8:124964990..125075671hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38110682
hg19110682
hg18110682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612142, nsv612141
Samples
Known GenesFER1L6, FER1L6-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12305n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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