A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14580



Internal ID9612092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15555338..15747897hg38UCSC Ensembl
Innerchr4:15556961..15749520hg19UCSC Ensembl
Innerchr4:15166059..15358618hg18UCSC Ensembl
Innerchr4:15233230..15425789hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38192560
hg19192560
hg18192560
hg17192560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757923
Supporting Variants
SamplesNA19202
Known GenesBST1, CC2D2A, FAM200B, FBXL5
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)essv14580
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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