A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548307



Internal ID18402697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106725166..106725414hg38UCSC Ensembl
Outerchr11:106725103..106725475hg38UCSC Ensembl
Innerchr11:106595892..106596140hg19UCSC Ensembl
Outerchr11:106595829..106596201hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747054
Samples
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548307
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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