A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2285n54



Internal ID18994461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136470..2143758hg38UCSC Ensembl
chr12:2245636..2252924hg19UCSC Ensembl
chr12:2115897..2123185hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387289
hg197289
hg187289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557046, nsv557054, nsv557047, nsv557061, nsv557048
SamplesHGDP00292, HGDP00277
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2285n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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