A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421642



Internal ID7905404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43417675hg38UCSC Ensembl
Innerchr21:44823479..44837555hg19UCSC Ensembl
Innerchr21:43647907..43661983hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814077
hg1914077
hg1814077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5045479, essv5031033, essv5143617, essv5155953, essv5038362, essv5046106, essv5029287, essv5097584, essv5141706, essv5157057, essv5099151, essv5048485, essv5123387, essv5014663, essv5097461, essv5131490, essv5077291, essv5048738, essv5090536, essv5092271, essv5090248, essv5072202, essv5028557, essv5073412, essv5072933, essv5140097, essv5102356, essv5143494, essv5005897, essv5146766, essv5008959, essv5044352, essv5043897, essv5068163, essv5044003, essv5033979, essv5045529, essv5091567, essv5010159, essv5093102, essv5116549, essv5143299, essv5120644, essv5036225, essv5143467, essv5042995, essv5160027
SamplesNA10865, NA12249, NA21438, NA19031, NA20890, NA12286, NA20866, NA19819, NA19404, NA21529, NA19310, NA20796, NA20902, NA21415, NA19379, NA21357, NA11891, NA20521, NA21528, NA21400, NA12056, NA21363, NA21587, NA20765, NA21738, NA19679, NA21451, NA21826, NA19380, NA19372, NA19680, NA12057, NA21485, NA21364, NA19382, NA21401, NA19035, NA21510, NA21733, NA10835, NA19431, NA21519, NA21620, NA11992, NA19381, NA21391, NA21617
Known GenesSIK1
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)esv2421642
Frequency
Sample Size1184
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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