A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759039



Internal ID9981184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:35638900..35894515hg38UCSC Ensembl
Innerchr2:35863966..36119581hg19UCSC Ensembl
Innerchr2:35717470..35973085hg18UCSC Ensembl
Innerchr2:35775617..36031232hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38255616
hg19255616
hg18255616
hg17255616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757791
SamplesNA19171, NA18547, NA18949, NA19194, NA19161, NA19205, NA10830, NA19099, NA12144, NA18854, NA19129
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)esv2759039
Frequency
Sample Size270
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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