A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548634



Internal ID18403024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2191829..2191885hg38UCSC Ensembl
chr12:2300995..2301051hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747381
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548634
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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