A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758050



Internal ID9633509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41621051..41731715hg38UCSC Ensembl
Innerchr6:41588789..41699453hg19UCSC Ensembl
Innerchr6:41696767..41807431hg18UCSC Ensembl
Innerchr6:41696767..41807431hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38110665
hg19110665
hg18110665
hg17110665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759422
Supporting Variantsessv1628
SamplesNA18942
Known GenesMDFI, TFEB
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)esv2758050
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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