A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2302804



Internal ID7627229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29577257..29584979hg38UCSC Ensembl
Outerchr6:29577056..29585174hg38UCSC Ensembl
Innerchr6:29545034..29552756hg19UCSC Ensembl
Outerchr6:29544833..29552951hg19UCSC Ensembl
Innerchr6:29653013..29660735hg18UCSC Ensembl
Outerchr6:29652812..29660930hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg388119
hg198119
hg188119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4569104
SamplesNA18507
Known GenesSNORD32B
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)esv2302804
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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