A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16190329



Internal ID1533355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43441859..43448600hg38UCSC Ensembl
Innerchr20:43441878..43448581hg38UCSC Ensembl
Outerchr20:43441840..43448619hg38UCSC Ensembl
chr20:42070499..42077240hg19UCSC Ensembl
Innerchr20:42070518..42077221hg19UCSC Ensembl
Outerchr20:42070480..42077259hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg386742
hg196742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645883
Supporting Variants
SamplesHG01405
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16190329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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