A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv113e215



Internal ID22785623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69884915..69885287hg38UCSC Ensembl
chr13:70459047..70459419hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3550659, esv3550658
Samples
Known GenesKLHL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv113e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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