A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692536



Internal ID14765907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31984588..31988086hg38UCSC Ensembl
Innerchr20:31985588..31987086hg38UCSC Ensembl
Outerchr20:31983588..31989086hg38UCSC Ensembl
chr20:30572391..30575889hg19UCSC Ensembl
Innerchr20:30573391..30574889hg19UCSC Ensembl
Outerchr20:30571391..30576889hg19UCSC Ensembl
chr20:30036052..30039550hg18UCSC Ensembl
Innerchr20:30037052..30038550hg18UCSC Ensembl
Outerchr20:30035052..30040550hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3362843
Supporting Variants
SamplesNA19240
Known GenesXKR7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692536
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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