A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675468



Internal ID9941573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33698841..33701121hg38UCSC Ensembl
chr20:32286647..32288927hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382281
hg192281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6209281, essv6363972, essv6010726, essv5625311, essv6237300, essv6522187, essv6319735, essv6045498, essv6290730, essv6080113, essv6525012, essv5839138
SamplesHG00542, HG00151, NA19355, HG00369, HG00334, HG01136, HG00701, NA19009, NA19835, NA19248, NA19468, HG00174
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675468
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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