A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547333



Internal ID18401723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12131027..12131306hg38UCSC Ensembl
Outerchr11:12130960..12131355hg38UCSC Ensembl
Innerchr11:12152574..12152853hg19UCSC Ensembl
Outerchr11:12152507..12152902hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746080
Samples
Known GenesMICAL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547333
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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