A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24258



Internal ID9622845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68909693..69548454hg38UCSC Ensembl
Innerchr4:69775411..70414172hg19UCSC Ensembl
Innerchr4:69810000..70448761hg18UCSC Ensembl
Innerchr4:69956171..70594932hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38638762
hg19638762
hg18638762
hg17638762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA10856
Known GenesUGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7
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)essv24258
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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