A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548309



Internal ID18402699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106748755..106751538hg38UCSC Ensembl
Outerchr11:106748749..106751543hg38UCSC Ensembl
Innerchr11:106619481..106622264hg19UCSC Ensembl
Outerchr11:106619475..106622269hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382795
hg192795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747056
Samples
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548309
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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