A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2872



Internal ID9624276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4199986..4488958hg38UCSC Ensembl
Innerchr11:4221216..4510188hg19UCSC Ensembl
Innerchr11:4177792..4466764hg18UCSC Ensembl
Innerchr11:4177792..4466764hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38288973
hg19288973
hg18288973
hg17288973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758253
Supporting Variants
SamplesNA18953
Known GenesLOC100506082, OR52B4, OR52K1, OR52K2, TRIM21
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)essv2872
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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