A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7921n54



Internal ID22775816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46124649..46128641hg38UCSC Ensembl
chr21:47544563..47548555hg19UCSC Ensembl
chr21:46368991..46372983hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383993
hg193993
hg183993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587945, nsv587949
Samples
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7921n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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