A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2289340



Internal ID2853661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189596484..189596802hg19UCSC Ensembl
Outerchr3:189596433..189596869hg19UCSC Ensembl
Innerchr3:191079178..191079496hg18UCSC Ensembl
Outerchr3:191079127..191079563hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4538950
SamplesNA18507
Known GenesTP63
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2289340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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