A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17914



Internal ID9957441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168592289..168638937hg38UCSC Ensembl
Innerchr6:168992969..169039617hg19UCSC Ensembl
Innerchr6:168735818..168781542hg18UCSC Ensembl
Innerchr6:168811525..168857249hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3846649
hg1946649
hg1845725
hg1745725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758095
Supporting Variants
SamplesNA12003
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)essv17914
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