A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19243



Internal ID1647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20533044..23111609hg19UCSC Ensembl
chr8:20577324..23167554hg18UCSC Ensembl
chr8:20577324..23167554hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV CNV
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
SamplesNA10838
Known GenesBIN3, BMP1, C8orf58, CHMP7, DOK2, EGR3, EPB49, FAM160B2, FGF17, FLJ14107, GFRA2, HR, KIAA1967, LGI3, LOC286059, LOC286114, LOC389641, MIR320A, NPM2, NUDT18, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, REEP4, RHOBTB2, SFTPC, SLC39A14, SORBS3, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, XPO7
MethodSNP_array
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)essv19243
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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