A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2351050



Internal ID2771379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64794083..64794257hg19UCSC Ensembl
Outerchr14:64793930..64794399hg19UCSC Ensembl
Innerchr14:63863836..63864010hg18UCSC Ensembl
Outerchr14:63863683..63864152hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4678531
SamplesNA18507
Known GenesESR2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2351050
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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