A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2057903



Internal ID7382328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87370734..87371056hg38UCSC Ensembl
Outerchr4:87370541..87371244hg38UCSC Ensembl
Innerchr4:88291886..88292208hg19UCSC Ensembl
Outerchr4:88291693..88292396hg19UCSC Ensembl
Innerchr4:88510910..88511232hg18UCSC Ensembl
Outerchr4:88510717..88511420hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4700683
SamplesNA18507
Known GenesHSD17B11
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)esv2057903
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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