A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538n27



Internal ID22767267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45448915..45499218hg38UCSC Ensembl
chr21:46868829..46919132hg19UCSC Ensembl
chr21:45693257..45743560hg18UCSC Ensembl
chr21:45693257..45743560hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3850304
hg1950304
hg1850304
hg1750304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459305, nsv459306
SamplesHGDP00433, HGDP00518
Known GenesCOL18A1, MIR6815
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)dgv538n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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