A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421637



Internal ID8252085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61715436..61740822hg38UCSC Ensembl
Innerchr20:60290492..60315878hg19UCSC Ensembl
Innerchr20:59723887..59749273hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3825387
hg1925387
hg1825387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5027969, essv5114879, essv5158599, essv5005978, essv5117280, essv5151409, essv5020302, essv5020102, essv5027909, essv5154383, essv5109014, essv5032817
SamplesNA20853, NA21089, NA21103, NA20869, NA20884, NA21119, NA20875, NA21113, NA21125, NA20847, NA21102, NA21091
Known GenesCDH4
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)esv2421637
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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