A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757880



Internal ID9979957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97497948..97703416hg38UCSC Ensembl
Innerchr3:97216792..97422260hg19UCSC Ensembl
Innerchr3:98699482..98904950hg18UCSC Ensembl
Innerchr3:98699482..98904950hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38205469
hg19205469
hg18205469
hg17205469
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759162
Supporting Variantsessv17505, essv904, essv4848, essv15051, essv6621, essv18396, essv19948, essv20932, essv9468, essv2886
SamplesNA18621, NA12801, NA12813, NA12762, NA19208, NA19000, NA12249, NA18953, NA18540, NA19129
Known GenesEPHA6
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)esv2757880
Frequency
Sample Size270
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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