A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16123732



Internal ID5172803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4245714..4248387hg38UCSC Ensembl
Innerchr20:4245716..4248386hg38UCSC Ensembl
Outerchr20:4245713..4248389hg38UCSC Ensembl
chr20:4226361..4229034hg19UCSC Ensembl
Innerchr20:4226363..4229033hg19UCSC Ensembl
Outerchr20:4226360..4229036hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382674
hg192674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645076
Supporting Variants
SamplesNA18599
Known GenesADRA1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16123732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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