A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8227



Internal ID9973608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50162113..50488392hg38UCSC Ensembl
Innerchr11:50121284..50447563hg19UCSC Ensembl
Innerchr11:50077860..50404139hg18UCSC Ensembl
Innerchr11:50077860..50404139hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38326280
hg19326280
hg18326280
hg17326280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758270
Supporting Variants
SamplesNA19116
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)essv8227
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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