A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992854



Internal ID1839470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42478978..42495142hg19UCSC Ensembl
Outerchr19:47170818..47186982hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg1916165
hg1816165
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564076
SamplesHuRef
Known GenesATP1A3
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992854
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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