A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2408644



Internal ID7733069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62686166..62686485hg38UCSC Ensembl
Outerchr1:62685959..62686698hg38UCSC Ensembl
Innerchr1:63151837..63152156hg19UCSC Ensembl
Outerchr1:63151630..63152369hg19UCSC Ensembl
Innerchr1:62924425..62924744hg18UCSC Ensembl
Outerchr1:62924218..62924957hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38740
hg19740
hg18740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4603803
SamplesNA18507
Known GenesDOCK7
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)esv2408644
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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