A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv719n27



Internal ID22767448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106020189..106070173hg38UCSC Ensembl
chr5:105355890..105405874hg19UCSC Ensembl
chr5:105383789..105433773hg18UCSC Ensembl
chr5:105383789..105433773hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3849985
hg1949985
hg1849985
hg1749985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462369, nsv462370, nsv462371
SamplesHGDP00738, HGDP00926, HGDP01345
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)dgv719n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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