A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241840



Internal ID5051749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94674211..94674872hg38UCSC Ensembl
Innerchr11:94674217..94674866hg38UCSC Ensembl
Outerchr11:94674205..94674878hg38UCSC Ensembl
chr11:94407377..94408038hg19UCSC Ensembl
Innerchr11:94407383..94408032hg19UCSC Ensembl
Outerchr11:94407371..94408044hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627323
Supporting Variants
SamplesNA18532
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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