A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421884



Internal ID1219314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59032966..59040760hg38UCSC Ensembl
Innerchr17:57110327..57118121hg19UCSC Ensembl
Innerchr17:54465109..54472903hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387795
hg197795
hg187795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5089007, essv5158372, essv5149605, essv5050853, essv5052309, essv5075378, essv5003143, essv5159527, essv5046185, essv5054304, essv5112231, essv5052336, essv5085162, essv5104370, essv5129529, essv5037345, essv5143056, essv5046430, essv5108415, essv5042538, essv5099448
SamplesNA19081, NA21447, NA19060, NA21371, NA18994, NA18943, NA19054, NA19059, NA18957, NA19088, NA18956, NA18959, NA19374, NA19373, NA19002, NA18942, NA18974, NA18955, NA21439, NA19079, NA20519
Known GenesTRIM37
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)esv2421884
Frequency
Sample Size1184
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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