A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670099



Internal ID9589518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144601000..144601115hg38UCSC Ensembl
chr8:145826384..145826499hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6595281, essv6062608, essv5508225
SamplesHG00313, NA18861, HG00139
Known GenesARHGAP39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670099
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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