A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644950



Internal ID7031701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:378868..384473hg38UCSC Ensembl
Innerchr20:378868..384473hg38UCSC Ensembl
Outerchr20:378561..384831hg38UCSC Ensembl
chr20:359512..365117hg19UCSC Ensembl
Innerchr20:359512..365117hg19UCSC Ensembl
Outerchr20:359205..365475hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385606
hg195606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16107593
SamplesNA18616
Known GenesTRIB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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