A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv632n27



Internal ID20132890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191341533..191355439hg38UCSC Ensembl
chr3:191059322..191073228hg19UCSC Ensembl
chr3:192542016..192555922hg18UCSC Ensembl
chr3:192542024..192555930hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3813907
hg1913907
hg1813907
hg1713907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461049, nsv461051, nsv461052, nsv461055, nsv461053, nsv461054
SamplesHGDP00191, HGDP00140, HGDP00898, HGDP00469, NINDS_232, HGDP01147
Known GenesCCDC50
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)dgv632n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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