A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560362



Internal ID18414752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152348821..152349136hg38UCSC Ensembl
Outerchr2:152348780..152349205hg38UCSC Ensembl
Innerchr2:153205335..153205650hg19UCSC Ensembl
Outerchr2:153205294..153205719hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e215
Supporting Variantsessv9759109
Samples
Known GenesFMNL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560362
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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