A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv420n27



Internal ID22767149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43001832..43191688hg38UCSC Ensembl
chr19:43505984..43695840hg19UCSC Ensembl
chr19:48197824..48387680hg18UCSC Ensembl
chr19:48197824..48387680hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38189857
hg19189857
hg18189857
hg17189857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458692, nsv458683, nsv458689, nsv458691, nsv458690
SamplesHGDP00933, HGDP00520, HGDP00905, HGDP01323, HGDP00924
Known GenesPSG11, PSG2, PSG5
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)dgv420n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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