A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16121778



Internal ID2145364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3317789..3331870hg38UCSC Ensembl
Innerchr20:3317817..3331843hg38UCSC Ensembl
Outerchr20:3317762..3331898hg38UCSC Ensembl
chr20:3298436..3312517hg19UCSC Ensembl
Innerchr20:3298464..3312490hg19UCSC Ensembl
Outerchr20:3298409..3312545hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3814082
hg1914082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645037
Supporting Variants
SamplesHG01944
Known GenesC20orf194
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16121778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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