A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1958503



Internal ID2470382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158629390..158629699hg19UCSC Ensembl
Outerchr1:158629189..158629906hg19UCSC Ensembl
Innerchr1:156896014..156896323hg18UCSC Ensembl
Outerchr1:156895813..156896530hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4821775
SamplesNA18507
Known GenesSPTA1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1958503
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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