A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287038



Internal ID4288854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111947115..111954449hg38UCSC Ensembl
Innerchr11:111947116..111954448hg38UCSC Ensembl
Outerchr11:111947114..111954450hg38UCSC Ensembl
chr11:111817839..111825173hg19UCSC Ensembl
Innerchr11:111817840..111825172hg19UCSC Ensembl
Outerchr11:111817838..111825174hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg387335
hg197335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627746
Supporting Variants
SamplesHG04216
Known GenesDIXDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287038
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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