A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759428



Internal ID9981573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51499718..51576053hg38UCSC Ensembl
Innerchr6:51364516..51440851hg19UCSC Ensembl
Innerchr6:51472475..51548810hg18UCSC Ensembl
Innerchr6:51472475..51548810hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3876336
hg1976336
hg1876336
hg1776336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758054
SamplesNA18942
Known Genes
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)esv2759428
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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