A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv241n27



Internal ID22766970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110189806..110199873hg38UCSC Ensembl
chr13:110842153..110852220hg19UCSC Ensembl
chr13:109640154..109650221hg18UCSC Ensembl
chr13:109640154..109650221hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3810068
hg1910068
hg1810068
hg1710068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456118, nsv456117
SamplesHGDP00857, HGDP00868
Known GenesCOL4A1
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)dgv241n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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