A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422127



Internal ID7905889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2149240hg38UCSC Ensembl
Innerchr12:2245636..2258406hg19UCSC Ensembl
Innerchr12:2115897..2128667hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812771
hg1912771
hg1812771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5024745, essv5107849, essv5136998, essv5052062, essv5021860, essv5081693, essv5107306, essv5101210, essv5108591, essv5059826, essv5091646, essv5160005, essv5061794, essv5141492, essv5154678, essv5146891, essv5141707, essv5047403, essv5155925, essv5095045, essv5108115, essv5131325, essv5077058, essv5033783, essv5023464, essv5046908, essv5130474, essv5030697, essv5133680, essv5060156, essv5038724, essv5003045, essv5150204, essv5083817, essv5040689, essv5015030, essv5006954, essv5002238, essv5033822, essv5057412, essv5159258, essv5156240
SamplesNA11881, NA12249, NA12344, NA12347, NA10839, NA19748, NA19788, NA10853, NA19682, NA19726, NA21108, NA12383, NA12864, NA20504, NA10852, NA20882, NA19681, NA19663, NA12006, NA19676, NA19790, NA20348, NA12348, NA12877, NA12275, NA12057, NA10856, NA12872, NA12375, NA12413, NA19683, NA12889, NA10835, NA19747, NA10830, NA18602, NA07022, NA19649, NA21089, NA11830, NA12003, NA19746
Known GenesCACNA1C
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)esv2422127
Frequency
Sample Size1184
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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