A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550658



Internal ID18751734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69884945..69885180hg38UCSC Ensembl
Outerchr13:69884915..69885241hg38UCSC Ensembl
Innerchr13:70459077..70459312hg19UCSC Ensembl
Outerchr13:70459047..70459373hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv113e215
Supporting Variantsessv9749405
Samples
Known GenesKLHL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550658
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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