A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19243



Internal ID2930941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20675533..23254096hg38UCSC Ensembl
Innerchr8:20533044..23111609hg19UCSC Ensembl
Innerchr8:20577324..23167554hg18UCSC Ensembl
Innerchr8:20577324..23167554hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382578564
hg192578566
hg182590231
hg172590231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758620
Supporting Variants
SamplesNA10838
Known GenesBIN3, BIN3-IT1, BMP1, C8orf58, CCAR2, CHMP7, DMTN, DOK2, EGR3, FAM160B2, FGF17, GFRA2, HR, LGI3, LOC101929172, LOC254896, LOC286059, LOC286114, LOC389641, MIR320A, NPM2, NUDT18, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, REEP4, RHOBTB2, SFTPC, SLC39A14, SORBS3, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, XPO7
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)essv19243
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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