A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692529



Internal ID13711925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31216079..31245486hg38UCSC Ensembl
Innerchr20:31217056..31244486hg38UCSC Ensembl
Outerchr20:31216079..31246486hg38UCSC Ensembl
chr20:29803909..29833289hg19UCSC Ensembl
Innerchr20:29804891..29832289hg19UCSC Ensembl
Outerchr20:29803909..29834289hg19UCSC Ensembl
chr20:29267552..29296950hg18UCSC Ensembl
Innerchr20:29268552..29295950hg18UCSC Ensembl
Outerchr20:29266552..29297950hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3829408
hg1929381
hg1829399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3362807
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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