A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988619



Internal ID1839073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42377151..42380755hg19UCSC Ensembl
Outerchr8:42496308..42499912hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg192804
hg182804
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564325
SamplesHuRef
Known GenesSLC20A2
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)esv988619
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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