A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547386



Internal ID18401776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18268817..18268869hg38UCSC Ensembl
Outerchr11:18268816..18268870hg38UCSC Ensembl
Innerchr11:18290364..18290416hg19UCSC Ensembl
Outerchr11:18290363..18290417hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54e215
Supporting Variantsessv9746133
Samples
Known GenesSAA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547386
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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