A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759580



Internal ID9981725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157557661..157820786hg38UCSC Ensembl
Innerchr7:157350355..157613478hg19UCSC Ensembl
Innerchr7:157043116..157306239hg18UCSC Ensembl
Innerchr7:156849831..157112954hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38263126
hg19263124
hg18263124
hg17263124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758618
SamplesNA19194, NA18997
Known GenesMIR153-2, PTPRN2
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)esv2759580
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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