A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8866n54



Internal ID22776761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197997477..198087104hg38UCSC Ensembl
chr3:197724348..197813975hg19UCSC Ensembl
chr3:199208745..199298372hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3889628
hg1989628
hg1889628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593172, nsv593164, nsv593166
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8866n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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