A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556494



Internal ID18410884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47686744..47690040hg38UCSC Ensembl
Outerchr19:47686596..47690243hg38UCSC Ensembl
Innerchr19:48190001..48193297hg19UCSC Ensembl
Outerchr19:48189853..48193500hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383648
hg193648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755241
Samples
Known GenesGLTSCR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556494
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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