A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177n27



Internal ID18991187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136470..2142107hg38UCSC Ensembl
chr12:2245636..2251273hg19UCSC Ensembl
chr12:2115897..2121534hg18UCSC Ensembl
chr12:2115897..2121534hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385638
hg195638
hg185638
hg175638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468969, nsv468971, nsv468970
SamplesHGDP00277, NINDS_271, 1780862419_A
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)dgv177n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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