A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758451



Internal ID9633910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36605619..36790120hg38UCSC Ensembl
Innerchr17:34962048..35147394hg19UCSC Ensembl
Innerchr17:32036161..32221507hg18UCSC Ensembl
Innerchr17:32036161..32221507hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38184502
hg19185347
hg18185347
hg17185347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758686
Supporting Variantsessv18986
SamplesNA12005
Known GenesMRM1
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)esv2758451
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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