A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2073610



Internal ID7398035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:140701077..140701166hg38UCSC Ensembl
Outerchr4:140700878..140701362hg38UCSC Ensembl
Innerchr4:141622231..141622320hg19UCSC Ensembl
Outerchr4:141622032..141622516hg19UCSC Ensembl
Innerchr4:141841681..141841770hg18UCSC Ensembl
Outerchr4:141841482..141841966hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38485
hg19485
hg18485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4698082
SamplesNA18507
Known GenesTBC1D9
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)esv2073610
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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