A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2281n54



Internal ID18994457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105687..2107029hg38UCSC Ensembl
chr12:2214853..2216195hg19UCSC Ensembl
chr12:2085114..2086456hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381343
hg191343
hg181343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557028, nsv557031, nsv557025, nsv557020, nsv557019
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2281n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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