A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2400186



Internal ID7724613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151368611..151368772hg38UCSC Ensembl
Outerchr3:151368498..151368882hg38UCSC Ensembl
Innerchr3:151086399..151086560hg19UCSC Ensembl
Outerchr3:151086286..151086670hg19UCSC Ensembl
Innerchr3:152569089..152569250hg18UCSC Ensembl
Outerchr3:152568976..152569360hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38385
hg19385
hg18385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4746200
SamplesNA18507
Known GenesMED12L, P2RY12
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)esv2400186
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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