A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv479n27



Internal ID22767208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182305789..182339642hg38UCSC Ensembl
chr2:183170516..183204369hg19UCSC Ensembl
chr2:182878761..182912614hg18UCSC Ensembl
chr2:182996022..183029875hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3833854
hg1933854
hg1833854
hg1733854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459955, nsv459956
SamplesHGDP01012, HGDP01003
Known GenesPDE1A
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)dgv479n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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