A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758144



Internal ID9633603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119932..544890hg38UCSC Ensembl
Innerchr8:69932..494890hg19UCSC Ensembl
Innerchr8:59932..484890hg18UCSC Ensembl
Innerchr8:59932..484890hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38424959
hg19424959
hg18424959
hg17424959
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759581
Supporting Variantsessv10646, essv15538, essv9463, essv8920, essv9344, essv12831, essv10730, essv22989, essv15014, essv16761, essv14532, essv10954, essv19949, essv16046, essv17894, essv11079, essv6400, essv19258, essv16152, essv18204, essv19439
SamplesNA18855, NA18870, NA07357, NA12813, NA19209, NA19200, NA19120, NA12003, NA18572, NA10838, NA19208, NA19202, NA11840, NA18853, NA18523, NA12057, NA19100, NA18501, NA19211, NA18872, NA18505
Known GenesFAM87A, FBXO25, OR4F21, RPL23AP53, TDRP, ZNF596
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)esv2758144
Frequency
Sample Size270
Observed Gain19
Observed Loss2
Observed Complex0
Frequencyn/a


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