A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv507n27



Internal ID22767236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14859792..14950848hg38UCSC Ensembl
chr20:14840438..14931494hg19UCSC Ensembl
chr20:14788438..14879494hg18UCSC Ensembl
chr20:14788438..14879494hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3891057
hg1991057
hg1891057
hg1791057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458915, nsv458914
SamplesHGDP00725, HGDP00675
Known GenesMACROD2, MACROD2-AS1
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)dgv507n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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