A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757800



Internal ID9979877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56432550..56624063hg38UCSC Ensembl
Innerchr2:56659685..56851198hg19UCSC Ensembl
Innerchr2:56513189..56704702hg18UCSC Ensembl
Innerchr2:56571336..56762849hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38191514
hg19191514
hg18191514
hg17191514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759052
Supporting Variantsessv5904
SamplesNA18550
Known GenesRNU6-35P
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)esv2757800
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