A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1343n100



Internal ID22787430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2140902..2156955hg38UCSC Ensembl
chr12:2250068..2266121hg19UCSC Ensembl
chr12:2120329..2136382hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816054
hg1916054
hg1816054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052206, nsv1045971
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1343n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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