A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527



Internal ID9608700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80174192..80468754hg38UCSC Ensembl
Innerchr2:80401318..80695879hg19UCSC Ensembl
Innerchr2:80254829..80549390hg18UCSC Ensembl
Innerchr2:80312976..80607537hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38294563
hg19294562
hg18294562
hg17294562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757812
Supporting Variants
SamplesNA19173
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)essv11527
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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