A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142753



Internal ID6058210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11745117..11752055hg38UCSC Ensembl
Innerchr20:11745117..11752055hg38UCSC Ensembl
Outerchr20:11744934..11752201hg38UCSC Ensembl
chr20:11725765..11732703hg19UCSC Ensembl
Innerchr20:11725765..11732703hg19UCSC Ensembl
Outerchr20:11725582..11732849hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386939
hg196939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645228
Supporting Variants
SamplesNA19452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142753
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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