A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21994



Internal ID9620329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7045699..8207953hg38UCSC Ensembl
Innerchr8:6903221..8065475hg19UCSC Ensembl
Innerchr8:6890631..8102885hg18UCSC Ensembl
Innerchr8:6890631..8102885hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381162255
hg191162255
hg181212255
hg171212255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA11995
Known GenesDEFA5, DEFB103A, 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)essv21994
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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