A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv492n27



Internal ID22767221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228501467..228566625hg38UCSC Ensembl
chr2:229366183..229431341hg19UCSC Ensembl
chr2:229074427..229139585hg18UCSC Ensembl
chr2:229191688..229256846hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3865159
hg1965159
hg1865159
hg1765159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460112, nsv460113, nsv460114
SamplesHGDP00470, HGDP00458, HGDP00464
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)dgv492n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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