A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421942



Internal ID8252390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36202820..36205828hg38UCSC Ensembl
Innerchr14:36672026..36675034hg19UCSC Ensembl
Innerchr14:35741777..35744785hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg383009
hg193009
hg183009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5051062, essv5135414, essv5045927, essv5129711, essv5157153, essv5153759, essv5094703, essv5151771, essv5087242, essv5156647, essv5005398, essv5130641, essv5036640, essv5048987, essv5160186, essv5107016, essv5138117, essv5157940, essv5064768, essv5091563
SamplesNA21423, NA21723, NA19171, NA20317, NA19916, NA19131, NA18916, NA21318, NA21448, NA18853, NA19132, NA21316, NA18914, NA18913, NA21388, NA19398, NA19173, NA18854, NA21389, NA19431
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)esv2421942
Frequency
Sample Size1184
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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