A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548469



Internal ID18402859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125183213..125183461hg38UCSC Ensembl
Outerchr11:125183153..125183530hg38UCSC Ensembl
Innerchr11:125053109..125053357hg19UCSC Ensembl
Outerchr11:125053049..125053426hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747216
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548469
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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