A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674389



Internal ID9940494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14741596..14741834hg38UCSC Ensembl
chr21:16113917..16114155hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6325333, essv6051918, essv5620989, essv6211388, essv6076456
SamplesNA19355, NA18504, HG01365, NA19172, NA19147
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674389
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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