A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12170n54



Internal ID22780065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53208794..53211002hg38UCSC Ensembl
chr8:54121354..54123562hg19UCSC Ensembl
chr8:54283907..54286115hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382209
hg192209
hg182209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611371, nsv611370
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12170n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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