A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758385



Internal ID9633844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:69342413..69499860hg38UCSC Ensembl
Innerchr15:69634752..69792199hg19UCSC Ensembl
Innerchr15:67421806..67579253hg18UCSC Ensembl
Innerchr15:67421806..67579253hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38157448
hg19157448
hg18157448
hg17157448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760037
Supporting Variantsessv7811, essv7697, essv6218, essv21786, essv8334, essv16864, essv11522, essv22145, essv22565, essv3351, essv17609, essv18583, essv674, essv7104, essv3751, essv18310, essv7033, essv7312, essv3999, essv6318, essv9367, essv13436, essv18121, essv6035, essv23651, essv20378, essv5818, essv7609, essv10888, essv11863, essv13936
SamplesNA18545, NA10857, NA18633, NA19192, NA10846, NA18558, NA18571, NA18970, NA19209, NA18975, NA11993, NA12753, NA10863, NA19205, NA12234, NA19221, NA18537, NA18566, NA10830, NA12239, NA18853, NA18570, NA18858, NA18945, NA18961, NA07348, NA19173, NA18636, NA18609, NA18854, NA18612
Known GenesKIF23, PAQR5, RPLP1
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)esv2758385
Frequency
Sample Size270
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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