A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2278n54



Internal ID18994454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105526..2107422hg38UCSC Ensembl
chr12:2214692..2216588hg19UCSC Ensembl
chr12:2084953..2086849hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381897
hg191897
hg181897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557021, nsv557014, nsv557022, nsv557026
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2278n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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