A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11822n54



Internal ID20145246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1748920..1829405hg38UCSC Ensembl
chr8:1697086..1777571hg19UCSC Ensembl
chr8:1684493..1764978hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3880486
hg1980486
hg1880486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv609530, nsv609529
Samples1782681313_A, 1780862414_A
Known GenesARHGEF10, CLN8, MIR596
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11822n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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