A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2374294



Internal ID8045405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194400438..194401197hg38UCSC Ensembl
Outerchr3:194400259..194401386hg38UCSC Ensembl
Innerchr3:194121167..194121926hg19UCSC Ensembl
Outerchr3:194120988..194122115hg19UCSC Ensembl
Innerchr3:195602456..195603215hg18UCSC Ensembl
Outerchr3:195602277..195603404hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381128
hg191128
hg181128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4617091
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)esv2374294
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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