A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv512n27



Internal ID22767241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45726581..45749938hg38UCSC Ensembl
chr20:44355220..44378577hg19UCSC Ensembl
chr20:43788634..43811984hg18UCSC Ensembl
chr20:43788634..43811984hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3823358
hg1923358
hg1823351
hg1723351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458989, nsv458988, nsv458987, nsv458991, nsv458992, nsv458990
SamplesHGDP00795, HGDP00797, HGDP00806, HGDP00799, HGDP01079, HGDP01376
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)dgv512n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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