A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675755



Internal ID9595174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18381605..18382402hg38UCSC Ensembl
chr10:18670534..18671331hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6582699, essv5803321, essv5485730, essv5749706
SamplesNA19445, NA19982, NA19382, NA19381
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675755
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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