A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16121486



Internal ID4100154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3137532..3139642hg38UCSC Ensembl
Innerchr20:3137532..3139642hg38UCSC Ensembl
Outerchr20:3137389..3139895hg38UCSC Ensembl
chr20:3118178..3120288hg19UCSC Ensembl
Innerchr20:3118178..3120288hg19UCSC Ensembl
Outerchr20:3118035..3120541hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382111
hg192111
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645031
Supporting Variants
SamplesHG03722
Known GenesUBOX5, UBOX5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16121486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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