A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv594n27



Internal ID22767323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5348966..5401171hg38UCSC Ensembl
chr3:5390651..5442857hg19UCSC Ensembl
chr3:5365651..5417857hg18UCSC Ensembl
chr3:5365651..5417857hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3852206
hg1952207
hg1852207
hg1752207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460362, nsv460363
SamplesNINDS_22, HGDP00901
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)dgv594n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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