A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692534



Internal ID15112561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31216079..31245586hg38UCSC Ensembl
Innerchr20:31217056..31244586hg38UCSC Ensembl
Outerchr20:31216079..31246586hg38UCSC Ensembl
chr20:29803909..29833389hg19UCSC Ensembl
Innerchr20:29804891..29832389hg19UCSC Ensembl
Outerchr20:29803909..29834389hg19UCSC Ensembl
chr20:29267552..29297050hg18UCSC Ensembl
Innerchr20:29268552..29296050hg18UCSC Ensembl
Outerchr20:29266552..29298050hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3829508
hg1929481
hg1829499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3451819
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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