A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12347



Internal ID9609611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..195827492hg38UCSC Ensembl
Innerchr3:195379483..195554363hg19UCSC Ensembl
Innerchr3:196864664..197038760hg18UCSC Ensembl
Innerchr3:196868577..197042673hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38174881
hg19174881
hg18174097
hg17174097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA19138
Known GenesMIR570, MUC20, MUC4, SDHAP2
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)essv12347
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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