A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13424



Internal ID9610808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130109402hg38UCSC Ensembl
Innerchr2:130575649..130866975hg19UCSC Ensembl
Innerchr2:130292119..130583445hg18UCSC Ensembl
Innerchr2:130291879..130583205hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38291327
hg19291327
hg18291327
hg17291327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA19192
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)essv13424
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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