A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16994



Internal ID9975384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168482707..168594233hg38UCSC Ensembl
Innerchr6:168883387..168994913hg19UCSC Ensembl
Innerchr6:168626236..168736838hg18UCSC Ensembl
Innerchr6:168701943..168812545hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38111527
hg19111527
hg18110603
hg17110603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758095
Supporting Variants
SamplesNA19144
Known GenesSMOC2
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)essv16994
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