A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8575n54



Internal ID22776470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128708896..128713872hg38UCSC Ensembl
chr3:128427739..128432715hg19UCSC Ensembl
chr3:129910429..129915405hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384977
hg194977
hg184977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591640, nsv591641
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8575n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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