A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666994



Internal ID9933099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42789283..42789881hg38UCSC Ensembl
chr21:44209393..44209991hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6237481, essv6101337, essv5798185, essv5820062, essv5713616, essv6426350, essv5607383, essv5797325, essv6259056, essv5997570, essv5438707, essv5503567, essv5806032, essv6098710, essv6455453, essv6022333, essv6143536, essv6095666, essv6110815, essv5432669, essv5927432, essv6074123, essv6399291, essv6477730, essv5807893, essv5659443, essv6290157, essv6561028, essv6460629, essv6157290, essv5993161, essv5427625
SamplesNA18861, NA18504, NA19443, NA19190, NA19373, NA19379, NA18519, NA19201, NA20287, NA19681, NA19383, NA19385, NA18520, HG01124, NA19210, NA19707, NA19403, NA18516, NA19114, NA19449, NA18912, NA19099, NA19469, NA19390, NA18909, NA19470, NA19102, NA19116, NA19213, NA18505, NA19129, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666994
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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