A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556476



Internal ID18757552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46293568..46293864hg38UCSC Ensembl
Outerchr19:46293494..46293927hg38UCSC Ensembl
Innerchr19:46796825..46797121hg19UCSC Ensembl
Outerchr19:46796751..46797184hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755223
Samples
Known GenesRNU6-66P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556476
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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