A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548180



Internal ID18402570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94177708..94178076hg38UCSC Ensembl
Outerchr11:94177637..94178150hg38UCSC Ensembl
Innerchr11:93910874..93911242hg19UCSC Ensembl
Outerchr11:93910803..93911316hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746927
Samples
Known GenesPANX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548180
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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