A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1919825



Internal ID7604992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118494914..118495011hg38UCSC Ensembl
OuterchrX:118494753..118495176hg38UCSC Ensembl
InnerchrX:117628877..117628974hg19UCSC Ensembl
OuterchrX:117628716..117629139hg19UCSC Ensembl
InnerchrX:117512905..117513002hg18UCSC Ensembl
OuterchrX:117512744..117513167hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38424
hg19424
hg18424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4922719
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)esv1919825
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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