A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757805



Internal ID9979882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67060147..67238530hg38UCSC Ensembl
Innerchr2:67287279..67465662hg19UCSC Ensembl
Innerchr2:67140783..67319166hg18UCSC Ensembl
Innerchr2:67198930..67377313hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38178384
hg19178384
hg18178384
hg17178384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759058
Supporting Variantsessv16331
SamplesNA19193
Known GenesLOC644838
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)esv2757805
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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