A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12843



Internal ID9610162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31262811..31266804hg38UCSC Ensembl
Innerchr6:31230588..31234581hg19UCSC Ensembl
Innerchr6:31338567..31342560hg18UCSC Ensembl
Innerchr6:31338567..31342560hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg383994
hg193994
hg183994
hg173994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA19120
Known Genes
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)essv12843
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer