A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122



Internal ID9608251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11924989..12532565hg38UCSC Ensembl
Innerchr8:11782498..12390074hg19UCSC Ensembl
Innerchr8:11819907..12434445hg18UCSC Ensembl
Innerchr8:11819907..12434445hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38607577
hg19607577
hg18614539
hg17614539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA19211
Known GenesDEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
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)essv11122
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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