A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2296261



Internal ID7620686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47485822..47485857hg38UCSC Ensembl
Outerchr4:47485610..47486058hg38UCSC Ensembl
Innerchr4:47487839..47487874hg19UCSC Ensembl
Outerchr4:47487627..47488075hg19UCSC Ensembl
Innerchr4:47182596..47182631hg18UCSC Ensembl
Outerchr4:47182384..47182832hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38449
hg19449
hg18449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4519480
SamplesNA18507
Known GenesATP10D
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)esv2296261
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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