A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389917



Internal ID15236884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58492490..58493488hg38UCSC Ensembl
Innerchr20:58492489..58493489hg38UCSC Ensembl
Outerchr20:58491490..58494488hg38UCSC Ensembl
chr20:57067546..57068544hg19UCSC Ensembl
Innerchr20:57067545..57068545hg19UCSC Ensembl
Outerchr20:57066546..57069544hg19UCSC Ensembl
chr20:56500952..56501950hg18UCSC Ensembl
Innerchr20:56501951..56500951hg18UCSC Ensembl
Outerchr20:56499952..56502950hg18UCSC Ensembl
Cytoband20q13.32
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 Variantsessv8692570
SamplesNA19239
Known GenesAPCDD1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389917
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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