A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5022992



Internal ID7766850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482739..69504046hg38UCSC Ensembl
Innerchr9:72097655..72118962hg19UCSC Ensembl
Innerchr9:71287475..71308782hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3821308
hg1921308
hg1821308
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421796
Supporting Variants
SamplesNA20319
Known GenesAPBA1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5022992
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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