A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421823



Internal ID8252271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75724865..75734920hg38UCSC Ensembl
Innerchr7:75354183..75364238hg19UCSC Ensembl
Innerchr7:75192119..75202174hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810056
hg1910056
hg1810056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5067722, essv5008312, essv5023409, essv5103006, essv5064624, essv5042278, essv5034795, essv5106697, essv5144308, essv5094507, essv5095271, essv5094640, essv5102502, essv5064727, essv5081294, essv5096295, essv5012568, essv5075398, essv5149278, essv5047505, essv5140700
SamplesNA11830, NA11829, NA07029, NA10835, NA11992, NA12275, NA12005, NA10839, NA12872, NA20883, NA12249, NA12766, NA06997, NA12864, NA20870, NA12873, NA06986, NA06994, NA07000, NA20908, NA12776
Known GenesHIP1
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)esv2421823
Frequency
Sample Size1184
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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