A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422136



Internal ID8252584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100950673..100954382hg38UCSC Ensembl
Innerchr3:100669517..100673226hg19UCSC Ensembl
Innerchr3:102152207..102155916hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5056288, essv5013593, essv5114734, essv5080951, essv5127327, essv5108250, essv5004293, essv5091572, essv5088896, essv5152491, essv5073405, essv5068005, essv5019520, essv5106112, essv5099938, essv5067126, essv5007790, essv5109618, essv5042445
SamplesNA19394, NA19028, NA20356, NA12891, NA21479, NA18498, NA19904, NA18949, NA21689, NA19708, NA19209, NA19194, NA20358, NA19390, NA19193, NA18500, NA18506, NA18854, NA18852
Known GenesABI3BP
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)esv2422136
Frequency
Sample Size1184
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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