A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5087669



Internal ID8228624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74548524..74559068hg38UCSC Ensembl
Innerchr17:72544663..72555207hg19UCSC Ensembl
Innerchr17:70056258..70066802hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3810545
hg1910545
hg1810545
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421329
Supporting Variants
SamplesNA21300
Known Genes
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)essv5087669
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