A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv444n27



Internal ID20132702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33533389..33540888hg38UCSC Ensembl
chr2:33758456..33765955hg19UCSC Ensembl
chr2:33611960..33619459hg18UCSC Ensembl
chr2:33670107..33677606hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
hg177500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456141, nsv456130
SamplesNINDS_66, HGDP01003
Known GenesRASGRP3
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)dgv444n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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