A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2222823



Internal ID2658126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189575916..189576215hg19UCSC Ensembl
Outerchr3:189575702..189576428hg19UCSC Ensembl
Innerchr3:191058610..191058909hg18UCSC Ensembl
Outerchr3:191058396..191059122hg18UCSC 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 Variantsessv5000708
SamplesNA18507
Known GenesTP63
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2222823
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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