A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10235



Internal ID9607265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231795602..231968956hg38UCSC Ensembl
Innerchr2:232660312..232833666hg19UCSC Ensembl
Innerchr2:232368556..232541910hg18UCSC Ensembl
Innerchr2:232485817..232659171hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38173355
hg19173355
hg18173355
hg17173355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757849
Supporting Variants
SamplesNA19152
Known GenesCOPS7B, DIS3L2, MIR1471, NPPC
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)essv10235
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