A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9446



Internal ID9631580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139048951..139242593hg38UCSC Ensembl
Innerchr7:138733697..138927339hg19UCSC Ensembl
Innerchr7:138384237..138577879hg18UCSC Ensembl
Innerchr7:138190952..138384594hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38193643
hg19193643
hg18193643
hg17193643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758616
Supporting Variants
SamplesNA19208
Known GenesTTC26, UBN2, ZC3HAV1
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)essv9446
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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