A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19544



Internal ID9617607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12116533..12709792hg38UCSC Ensembl
Innerchr8:11974042..12567301hg19UCSC Ensembl
Innerchr8:12011451..12611672hg18UCSC Ensembl
Innerchr8:12011451..12611672hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38593260
hg19593260
hg18600222
hg17600222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA12864
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7
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)essv19544
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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