A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17172



Internal ID9614972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..7483367hg38UCSC Ensembl
Innerchr8:7169416..7340889hg19UCSC Ensembl
Innerchr8:7156826..7328299hg18UCSC Ensembl
Innerchr8:7156826..7328299hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38171474
hg19171474
hg18171474
hg17171474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA19171
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB106A, DEFB106B, DEFB109P1B, DEFB4B, FAM66B, SPAG11B, USP17L1P, USP17L4, 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)essv17172
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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