A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759069



Internal ID9634528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80174192..80615336hg38UCSC Ensembl
Innerchr2:80401318..80842461hg19UCSC Ensembl
Innerchr2:80254829..80695972hg18UCSC Ensembl
Innerchr2:80312976..80754119hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38441145
hg19441144
hg18441144
hg17441144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757812
SamplesNA19171, NA18547, NA19138, NA19209, NA19205, NA19202, NA19144, NA19173
Known GenesCTNNA2, LRRTM1
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)esv2759069
Frequency
Sample Size270
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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