A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747387



Internal ID18374947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2589615..2589784hg38UCSC Ensembl
Outerchr12:2589594..2589803hg38UCSC Ensembl
Innerchr12:2698781..2698950hg19UCSC Ensembl
Outerchr12:2698760..2698969hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548640
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747387
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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