A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14204902



Internal ID2422452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69139773..69141573hg38UCSC Ensembl
Innerchr11:69139773..69141573hg38UCSC Ensembl
Outerchr11:69139473..69141786hg38UCSC Ensembl
chr11:68907241..68909041hg19UCSC Ensembl
Innerchr11:68907241..68909041hg19UCSC Ensembl
Outerchr11:68906941..68909254hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626744
Supporting Variants
SamplesHG02141
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14204902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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