A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548632



Internal ID18403022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2132835..2148830hg38UCSC Ensembl
Outerchr12:2129335..2149834hg38UCSC Ensembl
Innerchr12:2242001..2257996hg19UCSC Ensembl
Outerchr12:2238501..2259000hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820500
hg1920500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747379
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548632
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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