A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218940



Internal ID6097927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58386071..58387730hg38UCSC Ensembl
Innerchr20:58386118..58387683hg38UCSC Ensembl
Outerchr20:58386024..58387777hg38UCSC Ensembl
chr20:56961127..56962786hg19UCSC Ensembl
Innerchr20:56961174..56962739hg19UCSC Ensembl
Outerchr20:56961080..56962833hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646223
Supporting Variants
SamplesNA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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