A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287040



Internal ID4288856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111952723..111955387hg38UCSC Ensembl
Innerchr11:111952748..111955363hg38UCSC Ensembl
Outerchr11:111952699..111955412hg38UCSC Ensembl
chr11:111823447..111826111hg19UCSC Ensembl
Innerchr11:111823472..111826087hg19UCSC Ensembl
Outerchr11:111823423..111826136hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg382665
hg192665
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627747
Supporting Variants
SamplesHG03937
Known GenesDIXDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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