A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009527



Internal ID6721631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105709..2106293hg38UCSC Ensembl
chr12:2214875..2215459hg19UCSC Ensembl
chr12:2085136..2085720hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585530
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009527
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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