A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3137



Internal ID9624571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66936443..67254457hg38UCSC Ensembl
Innerchr7:66401430..66719444hg19UCSC Ensembl
Innerchr7:66038865..66356879hg18UCSC Ensembl
Innerchr7:65845580..66163594hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38318015
hg19318015
hg18318015
hg17318015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758118
Supporting Variants
SamplesNA18969
Known GenesMIR4650-1, MIR4650-2, SBDS, 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)essv3137
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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