A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7900n54



Internal ID22775795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45300095..45428674hg38UCSC Ensembl
chr21:46720010..46848589hg19UCSC Ensembl
chr21:45544438..45673017hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38128580
hg19128580
hg18128580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587844, nsv587843
SamplesHGDP00066, HGDP00137
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7900n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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