A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759535



Internal ID9981680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66936443..67394266hg38UCSC Ensembl
Innerchr7:66401430..66859253hg19UCSC Ensembl
Innerchr7:66038865..66496688hg18UCSC Ensembl
Innerchr7:65845580..66303403hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38457824
hg19457824
hg18457824
hg17457824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758118
SamplesNA18969, NA18949, NA19099, NA19144
Known GenesLOC101929736, MIR4650-1, MIR4650-2, PMS2P4, SBDS, STAG3L4, TMEM248, TYW1
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)esv2759535
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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