A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv189n27



Internal ID20132447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27593820..27679375hg38UCSC Ensembl
chr12:27746753..27832308hg19UCSC Ensembl
chr12:27638020..27723575hg18UCSC Ensembl
chr12:27638020..27723575hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3885556
hg1985556
hg1885556
hg1785556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469177, nsv469176
SamplesHGDP00733, HGDP00693
Known GenesPPFIBP1
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)dgv189n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer