A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759049



Internal ID9981194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52500242..52587399hg38UCSC Ensembl
Innerchr2:52727380..52814537hg19UCSC Ensembl
Innerchr2:52580884..52668041hg18UCSC Ensembl
Innerchr2:52639031..52726188hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3887158
hg1987158
hg1887158
hg1787158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757797
SamplesNA12762
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)esv2759049
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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