A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2195369



Internal ID7519794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110067875..110068647hg38UCSC Ensembl
Outerchr9:110067755..110068737hg38UCSC Ensembl
Innerchr9:112830155..112830927hg19UCSC Ensembl
Outerchr9:112830035..112831017hg19UCSC Ensembl
Innerchr9:111869976..111870748hg18UCSC Ensembl
Outerchr9:111869856..111870838hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38983
hg19983
hg18983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5001612
SamplesNA18507
Known GenesAKAP2, PALM2-AKAP2
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)esv2195369
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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