A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5502824



Internal ID8480227
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 StatusS
Merged Variantsesv2659811
Supporting Variants
SamplesHG01390
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5502824
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer