A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2312884



Internal ID7637310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137779962..137780228hg38UCSC Ensembl
Outerchr9:137779898..137780270hg38UCSC Ensembl
Innerchr9:140674414..140674680hg19UCSC Ensembl
Outerchr9:140674350..140674722hg19UCSC Ensembl
Innerchr9:139794235..139794501hg18UCSC Ensembl
Outerchr9:139794171..139794543hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38373
hg19373
hg18373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4594428
SamplesNA18507
Known GenesEHMT1
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)esv2312884
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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