A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv592n27



Internal ID20132850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4120923..4271051hg38UCSC Ensembl
chr3:4162607..4312735hg19UCSC Ensembl
chr3:4137607..4287735hg18UCSC Ensembl
chr3:4137607..4287735hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38150129
hg19150129
hg18150129
hg17150129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460354, nsv460353, nsv460355
Samples1782681313_A, 1780854417_A, 1798860491_A
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)dgv592n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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