A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759795



Internal ID9635254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2767814..2942382hg38UCSC Ensembl
Innerchr11:2789044..2963612hg19UCSC Ensembl
Innerchr11:2745620..2920188hg18UCSC Ensembl
Innerchr11:2745620..2920188hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38174569
hg19174569
hg18174569
hg17174569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758251
SamplesNA12802, NA12814
Known GenesCDKN1C, KCNQ1, KCNQ1DN, PHLDA2, SLC22A18, SLC22A18AS
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)esv2759795
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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