A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5502512



Internal ID8479915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13368736..13369056hg38UCSC Ensembl
chr19:13479550..13479870hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665817
Supporting Variants
SamplesNA19204
Known GenesCACNA1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5502512
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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