A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759540



Internal ID9634999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79632148..79798330hg38UCSC Ensembl
Innerchr7:79261464..79427646hg19UCSC Ensembl
Innerchr7:79099400..79265582hg18UCSC Ensembl
Innerchr7:78906115..79072297hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38166183
hg19166183
hg18166183
hg17166183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758121
SamplesNA19007
Known GenesMIR548M
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)esv2759540
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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