A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2273n54



Internal ID18994449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1798687..1824387hg38UCSC Ensembl
chr12:1907853..1933553hg19UCSC Ensembl
chr12:1778114..1803814hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825701
hg1925701
hg1825701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556997, nsv556998
SamplesHGDP00546, NINDS_173
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2273n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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