A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559825



Internal ID18414215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97768871..97769233hg38UCSC Ensembl
Outerchr2:97768795..97769258hg38UCSC Ensembl
Innerchr2:98385334..98385696hg19UCSC Ensembl
Outerchr2:98385258..98385721hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758572
Samples
Known GenesTMEM131
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559825
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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