A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548401



Internal ID18402791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:116865120..116866304hg38UCSC Ensembl
Outerchr11:116865103..116866479hg38UCSC Ensembl
Innerchr11:116735836..116737020hg19UCSC Ensembl
Outerchr11:116735819..116737195hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747148
Samples
Known GenesSIK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548401
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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