A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2274n54



Internal ID18994450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2052395..2054942hg38UCSC Ensembl
chr12:2161561..2164108hg19UCSC Ensembl
chr12:2031822..2034369hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382548
hg192548
hg182548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557005, nsv557001, nsv557004, nsv557002, nsv557006
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2274n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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