A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1993198



Internal ID7317623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29594283..29594340hg38UCSC Ensembl
Outerchr10:29594094..29594524hg38UCSC Ensembl
Innerchr10:29883212..29883269hg19UCSC Ensembl
Outerchr10:29883023..29883453hg19UCSC Ensembl
Innerchr10:29923218..29923275hg18UCSC Ensembl
Outerchr10:29923029..29923459hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38431
hg19431
hg18431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4848818
SamplesNA18507
Known GenesSVIL
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)esv1993198
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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