A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337461



Internal ID4339277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2685581..2743367hg38UCSC Ensembl
chr12:2794747..2852533hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857787
hg1957787
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628314
Supporting Variants
SamplesHG02489
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337461
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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