A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548470



Internal ID18402860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205752..125215253hg38UCSC Ensembl
Outerchr11:125203778..125216104hg38UCSC Ensembl
Innerchr11:125075648..125085149hg19UCSC Ensembl
Outerchr11:125073674..125086000hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3812327
hg1912327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747217
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548470
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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