A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11918



Internal ID9609134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71652593..71946530hg38UCSC Ensembl
Innerchr11:71363639..71657576hg19UCSC Ensembl
Innerchr11:71041287..71335224hg18UCSC Ensembl
Innerchr11:71041287..71335224hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38293938
hg19293938
hg18293938
hg17293938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758276
Supporting Variants
SamplesNA18502
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, RNF121, ZNF705E
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)essv11918
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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