A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2277n54



Internal ID18994453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105526..2106675hg38UCSC Ensembl
chr12:2214692..2215841hg19UCSC Ensembl
chr12:2084953..2086102hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381150
hg191150
hg181150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557013, nsv557012
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2277n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer