A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2062576



Internal ID700669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136533057..136533345hg38UCSC Ensembl
Outerchr9:136532907..136533504hg38UCSC Ensembl
Innerchr9:139427509..139427797hg19UCSC Ensembl
Outerchr9:139427359..139427956hg19UCSC Ensembl
Innerchr9:138547330..138547618hg18UCSC Ensembl
Outerchr9:138547180..138547777hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38598
hg19598
hg18598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4713610
SamplesNA18507
Known GenesNOTCH1
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)esv2062576
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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