A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990270



Internal ID7076513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79638670..79648997hg38UCSC Ensembl
Outerchr14:80105013..80115340hg19UCSC Ensembl
Outerchr14:79174766..79185093hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3810328
hg1910328
hg1810328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv46e180
Supporting Variantsessv3563553
SamplesHuRef
Known GenesNRXN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990270
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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