A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv253e215



Internal ID20151292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152348780..152349205hg38UCSC Ensembl
chr2:153205294..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 Variants
Supporting Variantsesv3560361, esv3560362
Samples
Known GenesFMNL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv253e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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