A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662937



Internal ID9929042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39103604..39107714hg38UCSC Ensembl
chr21:40475530..40479640hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg384111
hg194111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6400655, essv5848207, essv5828392, essv5901779, essv6535596, essv5592160, essv5619861, essv6451223
SamplesNA12286, NA20796, NA20795, HG00108, NA20810, HG00246, NA20799, NA12272
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662937
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer