A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381250



Internal ID15228222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53715206..53716904hg38UCSC Ensembl
Innerchr20:53715904..53716206hg38UCSC Ensembl
Outerchr20:53714206..53717904hg38UCSC Ensembl
chr20:52331745..52333443hg19UCSC Ensembl
Innerchr20:52332443..52332745hg19UCSC Ensembl
Outerchr20:52330745..52334443hg19UCSC Ensembl
chr20:51765152..51766850hg18UCSC Ensembl
Innerchr20:51766152..51765850hg18UCSC Ensembl
Outerchr20:51764152..51767850hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692558
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381250
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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