A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175n27



Internal ID20132433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1798687..1824387hg38UCSC Ensembl
chr12:1907853..1933553hg19UCSC Ensembl
chr12:1778114..1803814hg18UCSC Ensembl
chr12:1778114..1803814hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825701
hg1925701
hg1825701
hg1725701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468966, nsv468965
SamplesHGDP00546, NINDS_173
Known GenesCACNA2D4, LRTM2
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)dgv175n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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