A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127n27



Internal ID18991137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133452885..133620799hg38UCSC Ensembl
chr10:135266389..135434303hg19UCSC Ensembl
chr10:135116379..135284293hg18UCSC Ensembl
chr10:135155270..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38167915
hg19167915
hg18167915
hg17167915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467602, nsv467601, nsv467604, nsv467607, nsv467606, nsv467624
SamplesHGDP00791, 1780854260_A, 1780854318_A, 1780854117_A, 1782681495_A, 1780854495_A
Known GenesCYP2E1, SCART1, 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)dgv127n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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