A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759564



Internal ID9981709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:132636931..132859723hg38UCSC Ensembl
Innerchr7:132321690..132544483hg19UCSC Ensembl
Innerchr7:131972230..132195023hg18UCSC Ensembl
Innerchr7:131778945..132001738hg17UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38222793
hg19222794
hg18222794
hg17222794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758134
SamplesNA18563, NA18949
Known GenesCHCHD3, FLJ40288, PLXNA4
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)esv2759564
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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