A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13178



Internal ID9610534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15555338..15717277hg38UCSC Ensembl
Innerchr4:15556961..15718900hg19UCSC Ensembl
Innerchr4:15166059..15327998hg18UCSC Ensembl
Innerchr4:15233230..15395169hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38161940
hg19161940
hg18161940
hg17161940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757923
Supporting Variants
SamplesNA19102
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)essv13178
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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