A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2016015



Internal ID7340440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:324148..324688hg38UCSC Ensembl
Outerchr19:323959..324786hg38UCSC Ensembl
Innerchr19:324148..324688hg19UCSC Ensembl
Outerchr19:323959..324786hg19UCSC Ensembl
Innerchr19:275148..275688hg18UCSC Ensembl
Outerchr19:274959..275786hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38828
hg19828
hg18828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4589717
SamplesNA18507
Known GenesMIER2
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2016015
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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