A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5419178



Internal ID8396581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125237928..125238059hg38UCSC Ensembl
Outerchr11:125237891..125238109hg38UCSC Ensembl
Innerchr11:125107824..125107955hg19UCSC Ensembl
Outerchr11:125107787..125108005hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668431
Supporting Variants
SamplesHG00258
Known GenesPKNOX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5419178
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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