A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5999



Internal ID9627749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12116533..12550873hg38UCSC Ensembl
Innerchr8:11974042..12408382hg19UCSC Ensembl
Innerchr8:12011451..12452753hg18UCSC Ensembl
Innerchr8:12011451..12452753hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38434341
hg19434341
hg18441303
hg17441303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA18571
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)essv5999
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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