A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4733756



Internal ID7319388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123817372..123819004hg38UCSC Ensembl
OuterchrX:123817213..123819140hg38UCSC Ensembl
InnerchrX:122951222..122952854hg19UCSC Ensembl
OuterchrX:122951063..122952990hg19UCSC Ensembl
InnerchrX:122778903..122780535hg18UCSC Ensembl
OuterchrX:122778744..122780671hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381928
hg191928
hg181928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1986499
Supporting Variants
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)essv4733756
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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