A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758270



Internal ID9980347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50097252..50488392hg38UCSC Ensembl
Innerchr11:50056424..50447563hg19UCSC Ensembl
Innerchr11:50013000..50404139hg18UCSC Ensembl
Innerchr11:50013000..50404139hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38391141
hg19391140
hg18391140
hg17391140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759827
Supporting Variantsessv8227, essv21336, essv20666, essv12779
SamplesNA19120, NA12878, NA12892, NA19116
Known GenesLOC441601, LOC646813
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)esv2758270
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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