A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4747



Internal ID9626359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42469683..42945121hg38UCSC Ensembl
Innerchr10:42965131..43440569hg19UCSC Ensembl
Innerchr10:42285137..42760575hg18UCSC Ensembl
Innerchr10:42285137..42760575hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38475439
hg19475439
hg18475439
hg17475439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758216
Supporting Variants
SamplesNA18620
Known GenesBMS1, CCNYL2, LINC00839, ZNF33B, ZNF37BP
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)essv4747
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