A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2234618



Internal ID7559043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85541146..85541458hg38UCSC Ensembl
Outerchr4:85540974..85541655hg38UCSC Ensembl
Innerchr4:86462299..86462611hg19UCSC Ensembl
Outerchr4:86462127..86462808hg19UCSC Ensembl
Innerchr4:86681323..86681635hg18UCSC Ensembl
Outerchr4:86681151..86681832hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4797620
SamplesNA18507
Known GenesARHGAP24
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)esv2234618
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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