A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5033065



Internal ID8140486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44392234..44434616hg38UCSC Ensembl
Innerchr19:44896398..44938791hg19UCSC Ensembl
Innerchr19:49588238..49630631hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3842383
hg1942394
hg1842394
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421963
Supporting Variants
SamplesNA18858
Known GenesZNF229, ZNF285
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)essv5033065
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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