A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11023



Internal ID9608141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3215282..3678883hg38UCSC Ensembl
Innerchr11:3236512..3700113hg19UCSC Ensembl
Innerchr11:3193088..3656689hg18UCSC Ensembl
Innerchr11:3193088..3656689hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38463602
hg19463602
hg18463602
hg17463602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758252
Supporting Variants
SamplesNA19143
Known GenesART1, ART5, CHRNA10, LOC650368, MRGPRE, MRGPRG, MRGPRG-AS1, NUP98, OR7E12P, TRPC2, ZNF195
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)essv11023
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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