A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1943257



Internal ID2479758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144894124..144895109hg19UCSC Ensembl
Outerchr1:144893914..144895304hg19UCSC Ensembl
Innerchr1:143605481..143606466hg18UCSC Ensembl
Outerchr1:143605271..143606661hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4759527
SamplesNA18507
Known GenesPDE4DIP
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1943257
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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