A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12219n54



Internal ID22780114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83286816..83375018hg38UCSC Ensembl
chr8:84199051..84287253hg19UCSC Ensembl
chr8:84361606..84449808hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3888203
hg1988203
hg1888203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611637, nsv611638
SamplesHGDP00163
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12219n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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