A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2124797



Internal ID2519236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144896272..144901052hg19UCSC Ensembl
Outerchr1:144896129..144901183hg19UCSC Ensembl
Innerchr1:143607629..143612409hg18UCSC Ensembl
Outerchr1:143607486..143612540hg18UCSC 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 Variantsessv4913361
SamplesNA18507
Known GenesPDE4DIP
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2124797
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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