A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692555



Internal ID14721602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49248308..49249706hg38UCSC Ensembl
Innerchr20:49248706..49249308hg38UCSC Ensembl
Outerchr20:49247308..49250706hg38UCSC Ensembl
chr20:47864845..47866243hg19UCSC Ensembl
Innerchr20:47865243..47865845hg19UCSC Ensembl
Outerchr20:47863845..47867243hg19UCSC Ensembl
chr20:47298252..47299650hg18UCSC Ensembl
Innerchr20:47299252..47298650hg18UCSC Ensembl
Outerchr20:47297252..47300650hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445061
Supporting Variants
SamplesNA19239
Known GenesZNFX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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