A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336842



Internal ID15183830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63571055..63572053hg38UCSC Ensembl
Innerchr20:63571054..63572054hg38UCSC Ensembl
Outerchr20:63570055..63573053hg38UCSC Ensembl
chr20:62202408..62203406hg19UCSC Ensembl
Innerchr20:62202407..62203407hg19UCSC Ensembl
Outerchr20:62201408..62204406hg19UCSC Ensembl
chr20:61672852..61673850hg18UCSC Ensembl
Innerchr20:61673851..61672851hg18UCSC Ensembl
Outerchr20:61671852..61674850hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692612
SamplesNA19239
Known GenesHELZ2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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