A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667076



Internal ID9586495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144602748..144603048hg38UCSC Ensembl
chr8:145828132..145828432hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280693, essv6257585, essv5935114, essv6536096, essv6524491, essv5807186, essv6390611
SamplesNA18964, NA07347, NA19404, HG00614, HG01174, NA18623, NA18486
Known GenesARHGAP39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667076
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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