A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550375



Internal ID18751451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42181827..42182042hg38UCSC Ensembl
Outerchr13:42181778..42182099hg38UCSC Ensembl
Innerchr13:42755963..42756178hg19UCSC Ensembl
Outerchr13:42755914..42756235hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv104e215
Supporting Variantsessv9749122
Samples
Known GenesDGKH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550375
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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