A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645828



Internal ID7032576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40758890..40760417hg38UCSC Ensembl
Innerchr20:40758890..40760417hg38UCSC Ensembl
Outerchr20:40758842..40760467hg38UCSC Ensembl
chr20:39387530..39389057hg19UCSC Ensembl
Innerchr20:39387530..39389057hg19UCSC Ensembl
Outerchr20:39387482..39389107hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381528
hg191528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16186590, essv16186592, essv16186594, essv16186589, essv16186591, essv16186593
SamplesHG02301, HG02003, NA20342, HG01992, HG02941, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645828
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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