A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661276



Internal ID9580695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37846111..37848918hg38UCSC Ensembl
chr20:36474513..36477320hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382808
hg192808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6317436, essv6475961
SamplesNA19360, NA19399
Known GenesCTNNBL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661276
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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