A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2343384



Internal ID981477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71456405..71456551hg38UCSC Ensembl
Outerchr10:71456202..71456729hg38UCSC Ensembl
Innerchr10:73216162..73216308hg19UCSC Ensembl
Outerchr10:73215959..73216486hg19UCSC Ensembl
Innerchr10:72886168..72886314hg18UCSC Ensembl
Outerchr10:72885965..72886492hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38528
hg19528
hg18528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4713900
SamplesNA18507
Known GenesCDH23
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)esv2343384
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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