A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2280942



Internal ID7605368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11829556..11829781hg38UCSC Ensembl
Outerchr1:11829508..11829829hg38UCSC Ensembl
Innerchr1:11889613..11889838hg19UCSC Ensembl
Outerchr1:11889565..11889886hg19UCSC Ensembl
Innerchr1:11812200..11812425hg18UCSC Ensembl
Outerchr1:11812152..11812473hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4641147
SamplesNA18507
Known GenesCLCN6
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)esv2280942
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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