A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556653



Internal ID18757729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55530538..55530778hg38UCSC Ensembl
Outerchr19:55530511..55530780hg38UCSC Ensembl
Innerchr19:56041905..56042145hg19UCSC Ensembl
Outerchr19:56041878..56042147hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230e215
Supporting Variantsessv9755400
Samples
Known GenesSBK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556653
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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