A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2197125



Internal ID2663715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:149230616..149230862hg19UCSC Ensembl
Outerchr4:149230572..149230952hg19UCSC Ensembl
Innerchr4:149450066..149450312hg18UCSC Ensembl
Outerchr4:149450022..149450402hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4997721
SamplesNA18507
Known GenesNR3C2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2197125
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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