A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5691815



Internal ID8669218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38491963..38492068hg38UCSC Ensembl
chr21:39863887..39863992hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667140
Supporting Variants
SamplesNA20766
Known GenesERG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5691815
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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