A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989776



Internal ID7076361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:78361857..78362646hg38UCSC Ensembl
Outerchr14:78828200..78828989hg19UCSC Ensembl
Outerchr14:77897953..77898742hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38790
hg19790
hg18790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563864
SamplesHuRef
Known GenesNRXN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989776
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer