A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757993



Internal ID9633452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32245255..32738538hg38UCSC Ensembl
Innerchr5:32245361..32738644hg19UCSC Ensembl
Innerchr5:32281118..32774401hg18UCSC Ensembl
Innerchr5:32281118..32774401hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38493284
hg19493284
hg18493284
hg17493284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759338
Supporting Variantsessv10136
SamplesNA19130
Known GenesMTMR12, NPR3, SUB1, ZFR
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)esv2757993
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