A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758428



Internal ID9633887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69821219..70279319hg38UCSC Ensembl
Innerchr16:69855122..70313222hg19UCSC Ensembl
Innerchr16:68412623..68870723hg18UCSC Ensembl
Innerchr16:68412623..68870723hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38458101
hg19458101
hg18458101
hg17458101
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758652
Supporting Variantsessv11725, essv7144, essv23397, essv21833, essv12320, essv4275, essv4470, essv13081, essv3075, essv16914, essv17521, essv6721, essv13921, essv861, essv16525, essv2275, essv2065, essv13148, essv18240
SamplesNA18966, NA18603, NA18608, NA19210, NA18949, NA11839, NA18854, NA12762, NA18547, NA19000, NA19102, NA19154, NA12057, NA18552, NA19138, NA19205, NA18852, NA18981, NA10854
Known GenesAARS, CLEC18A, CLEC18C, EXOSC6, LOC100506060, MIR140, MIR1972-1, MIR1972-2, PDPR, PDXDC2P, WWP2
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)esv2758428
Frequency
Sample Size270
Observed Gain7
Observed Loss12
Observed Complex0
Frequencyn/a


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