A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2304443



Internal ID7975554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:96181763..96181805hg38UCSC Ensembl
Outerchr11:96181564..96181987hg38UCSC Ensembl
Innerchr11:95914927..95914969hg19UCSC Ensembl
Outerchr11:95914728..95915151hg19UCSC Ensembl
Innerchr11:95554575..95554617hg18UCSC Ensembl
Outerchr11:95554376..95554799hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38424
hg19424
hg18424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4662122
SamplesNA18507
Known GenesMAML2
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)esv2304443
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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