A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11442



Internal ID9608606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..196036832hg38UCSC Ensembl
Innerchr3:195379483..195763703hg19UCSC Ensembl
Innerchr3:196864664..197248100hg18UCSC Ensembl
Innerchr3:196868577..197252013hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38384221
hg19384221
hg18383437
hg17383437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA18857
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
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)essv11442
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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