A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998408



Internal ID6734344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2103103..2110174hg38UCSC Ensembl
Outerchr12:2212269..2219340hg19UCSC Ensembl
Outerchr12:2082530..2089601hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387072
hg197072
hg187072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563712
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998408
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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