A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv864n27



Internal ID22767593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8455500..8593251hg38UCSC Ensembl
chr8:8313010..8450761hg19UCSC Ensembl
chr8:8350420..8488171hg18UCSC Ensembl
chr8:8350420..8488171hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38137752
hg19137752
hg18137752
hg17137752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465454, nsv465456, nsv465455, nsv465452, nsv465457
SamplesHGDP00946, HGDP01234, HGDP00112, HGDP01215, HGDP00967
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)dgv864n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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