A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2023485



Internal ID7347910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:24964834..24965509hg38UCSC Ensembl
Outerchr4:24964653..24965706hg38UCSC Ensembl
Innerchr4:24966456..24967131hg19UCSC Ensembl
Outerchr4:24966275..24967328hg19UCSC Ensembl
Innerchr4:24575554..24576229hg18UCSC Ensembl
Outerchr4:24575373..24576426hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381054
hg191054
hg181054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4939271
SamplesNA18507
Known GenesCCDC149
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)esv2023485
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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