A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5400



Internal ID9627086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31492330..31529329hg38UCSC Ensembl
Innerchr6:31460107..31497106hg19UCSC Ensembl
Innerchr6:31568086..31605085hg18UCSC Ensembl
Innerchr6:31568086..31605085hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3837000
hg1937000
hg1837000
hg1737000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA18563
Known GenesMCCD1, MICB
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)essv5400
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