A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2304672



Internal ID7629097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97275119..97277640hg38UCSC Ensembl
Outerchr10:97274925..97277841hg38UCSC Ensembl
Innerchr10:99034876..99037397hg19UCSC Ensembl
Outerchr10:99034682..99037598hg19UCSC Ensembl
Innerchr10:99024866..99027387hg18UCSC Ensembl
Outerchr10:99024672..99027588hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg382917
hg192917
hg182917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4916981
SamplesNA18507
Known GenesARHGAP19, ARHGAP19-SLIT1
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)esv2304672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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