A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7821n54



Internal ID20141245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34073078..34074140hg38UCSC Ensembl
chr21:35445378..35446440hg19UCSC Ensembl
chr21:34367248..34368310hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381063
hg191063
hg181063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587415, nsv587418, nsv587403, nsv587413
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7821n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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