A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2165436



Internal ID7489861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141771427..141771553hg38UCSC Ensembl
Outerchr3:141771282..141771710hg38UCSC Ensembl
Innerchr3:141490269..141490395hg19UCSC Ensembl
Outerchr3:141490124..141490552hg19UCSC Ensembl
Innerchr3:142972959..142973085hg18UCSC Ensembl
Outerchr3:142972814..142973242hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4594395
SamplesNA18507
Known Genes
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)esv2165436
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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