A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107562



Internal ID5376039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:313378..314516hg38UCSC Ensembl
Innerchr20:313384..314511hg38UCSC Ensembl
Outerchr20:313373..314522hg38UCSC Ensembl
chr20:294022..295160hg19UCSC Ensembl
Innerchr20:294028..295155hg19UCSC Ensembl
Outerchr20:294017..295166hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644944
Supporting Variants
SamplesNA18916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107562
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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