A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17664



Internal ID9615518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104818443..105212934hg38UCSC Ensembl
Innerchr6:105266318..105660809hg19UCSC Ensembl
Innerchr6:105373011..105767502hg18UCSC Ensembl
Innerchr6:105373011..105767502hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38394492
hg19394492
hg18394492
hg17394492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758073
Supporting Variants
SamplesNA11881
Known GenesBVES, BVES-AS1, HACE1, LIN28B, LINC00577, POPDC3
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)essv17664
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