A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4881610



Internal ID7467242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150165933..150165970hg38UCSC Ensembl
OuterchrX:150165731..150166168hg38UCSC Ensembl
InnerchrX:149334163..149334200hg19UCSC Ensembl
OuterchrX:149333961..149334398hg19UCSC Ensembl
InnerchrX:149084821..149084858hg18UCSC Ensembl
OuterchrX:149084619..149085056hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38438
hg19438
hg18438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2141010
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)essv4881610
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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