A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv227n27



Internal ID22766956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:65336660..65934212hg38UCSC Ensembl
chr13:65910792..66508344hg19UCSC Ensembl
chr13:64808793..65406345hg18UCSC Ensembl
chr13:64808793..65406345hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38597553
hg19597553
hg18597553
hg17597553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455916, nsv455917
Samples1780862162_A, HGDP00224
Known Genes
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)dgv227n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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