A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv537n27



Internal ID20132795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45300095..45428674hg38UCSC Ensembl
chr21:46720010..46848589hg19UCSC Ensembl
chr21:45544438..45673017hg18UCSC Ensembl
chr21:45544438..45673017hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38128580
hg19128580
hg18128580
hg17128580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459304, nsv459303
SamplesHGDP00066, HGDP00137
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv537n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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