A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv536n27



Internal ID20132794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44863754..44891349hg38UCSC Ensembl
chr21:46283669..46311264hg19UCSC Ensembl
chr21:45108097..45135692hg18UCSC Ensembl
chr21:45108097..45135692hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3827596
hg1927596
hg1827596
hg1727596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459300, nsv459299
SamplesHGDP00968, HGDP00951
Known GenesITGB2, PTTG1IP
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)dgv536n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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