A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3091



Internal ID9624520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..8207953hg38UCSC Ensembl
Innerchr8:7169416..8065475hg19UCSC Ensembl
Innerchr8:7156826..8102885hg18UCSC Ensembl
Innerchr8:7156826..8102885hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38896060
hg19896060
hg18946060
hg17946060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA18969
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
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)essv3091
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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