A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756



Internal ID9628591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..8317524hg38UCSC Ensembl
Innerchr8:7169416..8175046hg19UCSC Ensembl
Innerchr8:7156826..8212456hg18UCSC Ensembl
Innerchr8:7156826..8212456hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381005631
hg191005631
hg181055631
hg171055631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA18562
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, 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)essv6756
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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