A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7374



Internal ID9629278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149971305..150169498hg38UCSC Ensembl
Innerchr7:149668394..149866587hg19UCSC Ensembl
Innerchr7:149299327..149497520hg18UCSC Ensembl
Innerchr7:149106042..149304235hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38198194
hg19198194
hg18198194
hg17198194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758139
Supporting Variants
SamplesNA18623
Known Genes
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)essv7374
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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