A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675400



Internal ID9941505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70580454..70582572hg38UCSC Ensembl
chr14:71047171..71049289hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382119
hg192119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6405541, essv5858423, essv6237629, essv6226735, essv6458854, essv5897559
SamplesHG00442, HG00451, NA18560, HG00557, HG00653, HG00619
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675400
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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