A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747383



Internal ID18374943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2352605..2352725hg38UCSC Ensembl
Outerchr12:2352592..2352743hg38UCSC Ensembl
Innerchr12:2461771..2461891hg19UCSC Ensembl
Outerchr12:2461758..2461909hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548636
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747383
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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