A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15127



Internal ID9974240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:141144507..141446797hg38UCSC Ensembl
Innerchr4:142065661..142367951hg19UCSC Ensembl
Innerchr4:142285111..142587401hg18UCSC Ensembl
Innerchr4:142423266..142725556hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38302291
hg19302291
hg18302291
hg17302291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757959
Supporting Variants
SamplesNA19129
Known GenesZNF330
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)essv15127
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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