A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692602



Internal ID15032938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62228801..62231099hg38UCSC Ensembl
Innerchr20:62229801..62230099hg38UCSC Ensembl
Outerchr20:62227801..62232099hg38UCSC Ensembl
chr20:60803857..60806155hg19UCSC Ensembl
Innerchr20:60804857..60805155hg19UCSC Ensembl
Outerchr20:60802857..60807155hg19UCSC Ensembl
chr20:60237252..60239550hg18UCSC Ensembl
Innerchr20:60238252..60238550hg18UCSC Ensembl
Outerchr20:60236252..60240550hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397660
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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