A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2086747



Internal ID2586953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:60812600..60812637hg19UCSC Ensembl
Outerchr18:60812405..60812832hg19UCSC Ensembl
Innerchr18:58963580..58963617hg18UCSC Ensembl
Outerchr18:58963385..58963812hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4966295
SamplesNA18507
Known GenesBCL2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2086747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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