A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107564



Internal ID3831092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:314180..315005hg38UCSC Ensembl
Innerchr20:314230..314955hg38UCSC Ensembl
Outerchr20:314130..315055hg38UCSC Ensembl
chr20:294824..295649hg19UCSC Ensembl
Innerchr20:294874..295599hg19UCSC Ensembl
Outerchr20:294774..295699hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644945
Supporting Variants
SamplesHG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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