A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983



Internal ID9967417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77899263..78251395hg38UCSC Ensembl
Innerchr2:78126389..78478521hg19UCSC Ensembl
Innerchr2:77979897..78332029hg18UCSC Ensembl
Innerchr2:78038044..78390176hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38352133
hg19352133
hg18352133
hg17352133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757811
Supporting Variants
SamplesNA18859
Known GenesSNAR-H
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)essv12983
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