A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv894n27



Internal ID22767623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83616035..83648108hg38UCSC Ensembl
chr8:84528270..84560343hg19UCSC Ensembl
chr8:84690825..84722898hg18UCSC Ensembl
chr8:84690825..84722898hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3832074
hg1932074
hg1832074
hg1732074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465732, nsv465731
SamplesHGDP00141, HGDP00926
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)dgv894n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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