A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421383



Internal ID8251831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:95442519..95447515hg38UCSC Ensembl
Innerchr11:95175683..95180679hg19UCSC Ensembl
Innerchr11:94815331..94820327hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg384997
hg194997
hg184997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5099338, essv5096548, essv5028406, essv5142469, essv5015062, essv5018546, essv5015838, essv5061296, essv5132746, essv5144048, essv5025695, essv5098564, essv5033428, essv5046537, essv5121671, essv5033214
SamplesNA21352, NA21489, NA21522, NA20359, NA21401, NA21353, NA20347, NA21400, NA21494, NA20360, NA21414, NA21682, NA19436, NA21302, NA21388, NA21303
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)esv2421383
Frequency
Sample Size1184
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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