A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv508n27



Internal ID22767237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16586557..16608358hg38UCSC Ensembl
chr20:16567202..16589003hg19UCSC Ensembl
chr20:16515202..16537003hg18UCSC Ensembl
chr20:16515202..16537003hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3821802
hg1921802
hg1821802
hg1721802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458942, nsv458937, nsv458941, nsv458938, nsv458936, nsv458939
SamplesHGDP00912, HGDP00904, HGDP00934, HGDP00942, HGDP00920, HGDP00576
Known Genes
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)dgv508n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer