A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv123n27



Internal ID22766852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133389090..133620799hg38UCSC Ensembl
chr10:135202594..135434303hg19UCSC Ensembl
chr10:135052584..135284293hg18UCSC Ensembl
chr10:135091475..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38231710
hg19231710
hg18231710
hg17231710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467529, nsv467510, nsv467516
SamplesHGDP00904, HGDP00812, 1780854574_A
Known GenesCYP2E1, MTG1, PAOX, SCART1, SPRN, 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)dgv123n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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