A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2259143



Internal ID7583569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19885231..19885373hg38UCSC Ensembl
Outerchr19:19885075..19885467hg38UCSC Ensembl
Innerchr19:19996040..19996182hg19UCSC Ensembl
Outerchr19:19995884..19996276hg19UCSC Ensembl
Innerchr19:19857040..19857182hg18UCSC Ensembl
Outerchr19:19856884..19857276hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38393
hg19393
hg18393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4733221
SamplesNA18507
Known GenesZNF253
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)esv2259143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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