A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677510



Internal ID9943615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9988454..9997710hg38UCSC Ensembl
chr21:10466482..10475738hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg389257
hg199257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5925457, essv6334676, essv6064943, essv5671027, essv5695875, essv5984305, essv6479250, essv5816194, essv5858418, essv6429665
SamplesNA18565, NA18964, NA18611, HG00464, NA18538, NA19082, HG00557, NA18961, NA18941, NA19083
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677510
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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