A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv693n27



Internal ID22767422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18665041..18726907hg38UCSC Ensembl
chr5:18665150..18727016hg19UCSC Ensembl
chr5:18700907..18762773hg18UCSC Ensembl
chr5:18700907..18762773hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3861867
hg1961867
hg1861867
hg1761867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461996, nsv461998
Samples1782681169_A, 1780854566_A
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)dgv693n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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