A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1348



Internal ID9610869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30175777..30655412hg38UCSC Ensembl
Innerchr15:30467980..30947615hg19UCSC Ensembl
Innerchr15:28255272..28734907hg18UCSC Ensembl
Innerchr15:28255272..28734907hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38479636
hg19479636
hg18479636
hg17479636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758374
Supporting Variants
SamplesNA19007
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, LOC100288637, LOC101059918, ULK4P1, ULK4P2
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)essv1348
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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