A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv184n27



Internal ID22766913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11328123..11422636hg38UCSC Ensembl
chr12:11481057..11575570hg19UCSC Ensembl
chr12:11372324..11466837hg18UCSC Ensembl
chr12:11372324..11466837hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3894514
hg1994514
hg1894514
hg1794514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469102, nsv469103
Samples1780862224_A, NINDS_69
Known GenesPRB1, PRB2
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)dgv184n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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