A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548085



Internal ID18749161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85552457..85563738hg38UCSC Ensembl
Outerchr11:85550957..85564090hg38UCSC Ensembl
Innerchr11:85263501..85274782hg19UCSC Ensembl
Outerchr11:85262001..85275134hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3813134
hg1913134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e215
Supporting Variantsessv9746832
Samples
Known GenesDLG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548085
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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