A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659811



Internal ID9579230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18528795..18529823hg38UCSC Ensembl
chr10:18817724..18818752hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5502824
SamplesHG01390
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659811
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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