A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663243



Internal ID9929348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59721842..59740560hg38UCSC Ensembl
chr20:58296897..58315615hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3818719
hg1918719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5873247
SamplesHG00554
Known GenesPHACTR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663243
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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