A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421796



Internal ID7905558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482739..69504046hg38UCSC Ensembl
Innerchr9:72097655..72118962hg19UCSC Ensembl
Innerchr9:71287475..71308782hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3821308
hg1921308
hg1821308
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5111787, essv5088466, essv5119046, essv5049952, essv5135074, essv5113205, essv5126094, essv5066356, essv5156002, essv5075918, essv5110292, essv5080298, essv5138133, essv5094378, essv5158113, essv5022992, essv5114517, essv5021582, essv5006183, essv5079511, essv5132784, essv5065249, essv5003999, essv5019208, essv5132666, essv5127794, essv5132818, essv5124731, essv5153127, essv5061863, essv5033640, essv5150380, essv5009256, essv5081761
SamplesNA10831, NA18863, NA21524, NA21473, NA21678, NA18952, NA19677, NA21529, NA18953, NA20319, NA19208, NA18862, NA19140, NA18670, NA12155, NA21647, NA19835, NA21451, NA19457, NA21144, NA21650, NA19676, NA19380, NA21525, NA21648, NA18910, NA19318, NA19235, NA21635, NA21086, NA20317, NA21355, NA20301, NA21526
Known GenesAPBA1
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)esv2421796
Frequency
Sample Size1184
Observed Gain15
Observed Loss19
Observed Complex0
Frequencyn/a


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