A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666138



Internal ID9932243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37263210..37265880hg38UCSC Ensembl
chr20:35891613..35894283hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382671
hg192671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6043635, essv5403900, essv6565585, essv6270474, essv5858184, essv6172247
SamplesHG00610, NA18571, HG00583, NA19072, HG00628, NA18624
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666138
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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