A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv878n27



Internal ID18991888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18996430..19003973hg38UCSC Ensembl
chr8:18853940..18861483hg19UCSC Ensembl
chr8:18898220..18905763hg18UCSC Ensembl
chr8:18898220..18905763hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387544
hg197544
hg187544
hg177544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465598, nsv465597
SamplesHGDP00096, HGDP00650
Known GenesPSD3
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)dgv878n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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