A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv176n27



Internal ID18991186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2118145..2160422hg38UCSC Ensembl
chr12:2227311..2269588hg19UCSC Ensembl
chr12:2097572..2139849hg18UCSC Ensembl
chr12:2097572..2139849hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3842278
hg1942278
hg1842278
hg1742278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468967, nsv468968
SamplesHGDP00708, HGDP01303
Known GenesCACNA1C
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)dgv176n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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