A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24375



Internal ID9622975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7045699..8317524hg38UCSC Ensembl
Innerchr8:6903221..8175046hg19UCSC Ensembl
Innerchr8:6890631..8212456hg18UCSC Ensembl
Innerchr8:6890631..8212456hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381271826
hg191271826
hg181321826
hg171321826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA12707
Known GenesDEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, 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)essv24375
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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