A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12440n54



Internal ID20145864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144463603..144474259hg38UCSC Ensembl
chr8:145688986..145699642hg19UCSC Ensembl
chr8:145659794..145670450hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810657
hg1910657
hg1810657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612948, nsv612945, nsv612949, nsv612950
Samples
Known GenesCYHR1, FOXH1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12440n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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