A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2043603



Internal ID7368028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:114303508..114303646hg38UCSC Ensembl
Outerchr3:114303387..114303773hg38UCSC Ensembl
Innerchr3:114022355..114022493hg19UCSC Ensembl
Outerchr3:114022234..114022620hg19UCSC Ensembl
Innerchr3:115505045..115505183hg18UCSC Ensembl
Outerchr3:115504924..115505310hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38387
hg19387
hg18387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4501611
SamplesNA18507
Known GenesTIGIT
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)esv2043603
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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