A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv128n27



Internal ID20132386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133489528..133588696hg38UCSC Ensembl
chr10:135303032..135402200hg19UCSC Ensembl
chr10:135153022..135252190hg18UCSC Ensembl
chr10:135191913..135291081hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3899169
hg1999169
hg1899169
hg1799169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467623, nsv467622
Samples1780854158_A, HGDP00546
Known GenesCYP2E1, SPRNP1, SYCE1
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)dgv128n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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