A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628313



Internal ID6668456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2568683..2574311hg38UCSC Ensembl
Innerchr12:2568722..2574272hg38UCSC Ensembl
Outerchr12:2568644..2574350hg38UCSC Ensembl
chr12:2677849..2683477hg19UCSC Ensembl
Innerchr12:2677888..2683438hg19UCSC Ensembl
Outerchr12:2677810..2683516hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385629
hg195629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337460
SamplesNA20853
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer