A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18995



Internal ID9957604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99199756..99341551hg38UCSC Ensembl
Innerchr11:99070487..99212282hg19UCSC Ensembl
Innerchr11:98575697..98717492hg18UCSC Ensembl
Innerchr11:98575697..98717492hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38141796
hg19141796
hg18141796
hg17141796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758285
Supporting Variants
SamplesNA12005
Known GenesCNTN5
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)essv18995
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