A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5544



Internal ID9627245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7091627..8207953hg38UCSC Ensembl
Innerchr8:6949149..8065475hg19UCSC Ensembl
Innerchr8:6936559..8102885hg18UCSC Ensembl
Innerchr8:6936559..8102885hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381116327
hg191116327
hg181166327
hg171166327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA18529
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, 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)essv5544
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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