A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv694n27



Internal ID22767423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28763545..28874006hg38UCSC Ensembl
chr5:28763652..28874113hg19UCSC Ensembl
chr5:28799409..28909870hg18UCSC Ensembl
chr5:28799409..28909870hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38110462
hg19110462
hg18110462
hg17110462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462033, nsv462029
SamplesHGDP00933, NINDS_222
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)dgv694n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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