A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv225n27



Internal ID22766954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42897267..42950680hg38UCSC Ensembl
chr13:43471403..43524816hg19UCSC Ensembl
chr13:42369403..42422816hg18UCSC Ensembl
chr13:42369403..42422816hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3853414
hg1953414
hg1853414
hg1753414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455871, nsv455872
SamplesHGDP01229, 1780846320_A
Known GenesEPSTI1
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)dgv225n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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