A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2106003



Internal ID7777114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25677912..25678255hg38UCSC Ensembl
Outerchr14:25677710..25678438hg38UCSC Ensembl
Innerchr14:26147118..26147461hg19UCSC Ensembl
Outerchr14:26146916..26147644hg19UCSC Ensembl
Innerchr14:25216958..25217301hg18UCSC Ensembl
Outerchr14:25216756..25217484hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38729
hg19729
hg18729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4744122
SamplesNA18507
Known Genes
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)esv2106003
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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