A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12053n54



Internal ID19004229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19678504..19697887hg38UCSC Ensembl
chr8:19536015..19555398hg19UCSC Ensembl
chr8:19580295..19599678hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3819384
hg1919384
hg1819384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610758, nsv610757
SamplesHGDP00455, HGDP00475, HGDP01091, HGDP01090, HGDP01086, HGDP00454
Known GenesCSGALNACT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12053n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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