A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564249



Internal ID6688945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2255682..2257209hg38UCSC Ensembl
Outerchr12:2364848..2366375hg19UCSC Ensembl
Outerchr12:2235109..2236636hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385708
hg195708
hg185708
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000811
Supporting Variants
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564249
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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