A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2057266



Internal ID695359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:32969197..32970971hg38UCSC Ensembl
OuterchrX:32969047..32971138hg38UCSC Ensembl
InnerchrX:32987314..32989088hg19UCSC Ensembl
OuterchrX:32987164..32989255hg19UCSC Ensembl
InnerchrX:32897235..32899009hg18UCSC Ensembl
OuterchrX:32897085..32899176hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg382092
hg192092
hg182092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4823811
SamplesNA18507
Known GenesDMD
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)esv2057266
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer