A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2057266



Internal ID2570822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:32987314..32989088hg19UCSC Ensembl
OuterchrX:32987164..32989255hg19UCSC Ensembl
InnerchrX:32897235..32899009hg18UCSC Ensembl
OuterchrX:32897085..32899176hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4823811
SamplesNA18507
Known GenesDMD
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2057266
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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