A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv873n27



Internal ID20133131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:15545427..15569939hg38UCSC Ensembl
chr8:15402936..15427448hg19UCSC Ensembl
chr8:15447307..15471819hg18UCSC Ensembl
chr8:15447307..15471819hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3824513
hg1924513
hg1824513
hg1724513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465557, nsv465556
SamplesHGDP00805, 1782681091_A
Known GenesTUSC3
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)dgv873n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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