A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664661



Internal ID9930766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41564404..41564595hg38UCSC Ensembl
Outerchr21:41564247..41564748hg38UCSC Ensembl
Innerchr21:42936331..42936522hg19UCSC Ensembl
Outerchr21:42936174..42936675hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5574928, essv5932919, essv5543354, essv6003301, essv6266182
SamplesNA12155, HG00127, HG00284, NA20542, NA20503
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664661
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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