A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652113



Internal ID15101777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39089329..39089994hg38UCSC Ensembl
Innerchr20:39089329..39089994hg38UCSC Ensembl
Outerchr20:39088800..39091291hg38UCSC Ensembl
chr20:37717972..37718637hg19UCSC Ensembl
Innerchr20:37717972..37718637hg19UCSC Ensembl
Outerchr20:37717443..37719934hg19UCSC Ensembl
chr20:37151386..37152051hg18UCSC Ensembl
Innerchr20:37151386..37152051hg18UCSC Ensembl
Outerchr20:37150857..37153348hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38666
hg19666
hg18666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364332
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652113
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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