A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2276274



Internal ID2608904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88890021..88890195hg19UCSC Ensembl
Outerchr14:88889864..88890370hg19UCSC Ensembl
Innerchr14:87959774..87959948hg18UCSC Ensembl
Outerchr14:87959617..87960123hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4814305
SamplesNA18507
Known GenesSPATA7
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2276274
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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