A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7168



Internal ID9963584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:35638900..35807022hg38UCSC Ensembl
Innerchr2:35863966..36032088hg19UCSC Ensembl
Innerchr2:35717470..35885592hg18UCSC Ensembl
Innerchr2:35775617..35943739hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38168123
hg19168123
hg18168123
hg17168123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757791
Supporting Variants
SamplesNA18547
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)essv7168
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer