A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5802414



Internal ID8779817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18214146..18214660hg38UCSC Ensembl
chr10:18503075..18503589hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656979
Supporting Variants
SamplesHG00174
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5802414
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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