A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757734



Internal ID9979811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72276713..72421130hg38UCSC Ensembl
Innerchr1:72742396..72886813hg19UCSC Ensembl
Innerchr1:72514984..72659401hg18UCSC Ensembl
Innerchr1:72454417..72598834hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38144418
hg19144418
hg18144418
hg17144418
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758939
Supporting Variantsessv7142, essv18931, essv19534, essv13838, essv6573, essv21429, essv19971, essv8162, essv20234, essv23019, essv15083, essv9072, essv18231, essv20098, essv9974, essv5187, essv6180
SamplesNA12717, NA18621, NA12813, NA12812, NA18547, NA07048, NA18611, NA12005, NA18532, NA19099, NA12144, NA19132, NA19206, NA12864, NA12057, NA18854, NA19129
Known GenesNEGR1
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)esv2757734
Frequency
Sample Size270
Observed Gain3
Observed Loss14
Observed Complex0
Frequencyn/a


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