A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759536



Internal ID9981681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:69947518..70129175hg38UCSC Ensembl
Innerchr7:69412504..69594161hg19UCSC Ensembl
Innerchr7:69050440..69232097hg18UCSC Ensembl
Innerchr7:68857155..69038812hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38181658
hg19181658
hg18181658
hg17181658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758119
SamplesNA19099
Known GenesAUTS2
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)esv2759536
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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