A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337342



Internal ID4339158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2417976..2427899hg38UCSC Ensembl
Innerchr12:2418015..2427860hg38UCSC Ensembl
Outerchr12:2417937..2427938hg38UCSC Ensembl
chr12:2527142..2537065hg19UCSC Ensembl
Innerchr12:2527181..2537026hg19UCSC Ensembl
Outerchr12:2527103..2537104hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389924
hg199924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628309
Supporting Variants
SamplesHG03642
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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