A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422010



Internal ID7905772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:965716..970002hg38UCSC Ensembl
Innerchr12:1074882..1079168hg19UCSC Ensembl
Innerchr12:945143..949429hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384287
hg194287
hg184287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5130393, essv5088526, essv5105041, essv5041026, essv5011552, essv5133473, essv5094195, essv5106197, essv5032536, essv5157905, essv5026082, essv5050403, essv5125168, essv5004648, essv5106109, essv5120972, essv5154761, essv5005929, essv5107057, essv5127585, essv5124842, essv5100268, essv5063240, essv5074344, essv5138459, essv5046692, essv5124320, essv5031092, essv5036891, essv5108703, essv5072721, essv5024821, essv5019465, essv5114184, essv5027070, essv5140572
SamplesNA21634, NA21520, NA21512, NA21473, NA21580, NA21613, NA21599, NA19310, NA19319, NA18516, NA21435, NA21423, NA21479, NA21425, NA21312, NA21368, NA21314, NA21587, NA21408, NA19098, NA21364, NA21527, NA19332, NA21313, NA21521, NA21360, NA19818, NA21480, NA21405, NA21436, NA21583, NA19179, NA19118, NA19466, NA21526, NA21617
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)esv2422010
Frequency
Sample Size1184
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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