A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3693



Internal ID9625188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129589265..130109402hg38UCSC Ensembl
Innerchr2:130346838..130866975hg19UCSC Ensembl
Innerchr2:130063308..130583445hg18UCSC Ensembl
Innerchr2:130063068..130583205hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38520138
hg19520138
hg18520138
hg17520138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18947
Known GenesFAR2P1, LOC389033, POTEF, RAB6C, RAB6C-AS1
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)essv3693
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