A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12217n54



Internal ID22780112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83242979..83367649hg38UCSC Ensembl
chr8:84155214..84279884hg19UCSC Ensembl
chr8:84317769..84442439hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38124671
hg19124671
hg18124671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611633, nsv611634
SamplesNINDS_116
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12217n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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