A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758249



Internal ID9980326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133408822..133577004hg38UCSC Ensembl
Innerchr10:135222326..135390508hg19UCSC Ensembl
Innerchr10:135072316..135240498hg18UCSC Ensembl
Innerchr10:135111207..135279389hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38168183
hg19168183
hg18168183
hg17168183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759793
Supporting Variantsessv17136, essv15490, essv20636, essv9078, essv13677, essv9378, essv10491, essv11287, essv18593, essv228, essv16066, essv13830, essv8426
SamplesNA19204, NA19171, NA19119, NA18515, NA18516, NA18948, NA12234, NA12892, NA18853, NA19132, NA18501, NA18854, NA18505
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758249
Frequency
Sample Size270
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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