A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759315



Internal ID9634774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17263..595840hg38UCSC Ensembl
Innerchr5:17263..595955hg19UCSC Ensembl
Innerchr5:70263..648955hg18UCSC Ensembl
Innerchr5:70263..648955hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38578578
hg19578693
hg18578693
hg17578693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757977
SamplesNA12813, NA18949, NA19128, NA12003, NA10831, NA19161, NA10838, NA19206, NA12874, NA07348, NA19102, NA12875
Known GenesAHRR, C5orf55, CCDC127, EXOC3, LOC102467073, LRRC14B, MIR4456, PDCD6, PLEKHG4B, PP7080, SDHA, SLC9A3
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)esv2759315
Frequency
Sample Size270
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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