A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5074777



Internal ID7818635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155216160..155236376hg38UCSC Ensembl
Innerchr1:155185951..155206167hg19UCSC Ensembl
Innerchr1:153452575..153472791hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820217
hg1920217
hg1820217
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421617
Supporting Variants
SamplesNA19173
Known GenesGBA, GBAP1
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)essv5074777
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