A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757879



Internal ID9979956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:95564923..95674910hg38UCSC Ensembl
Innerchr3:95283767..95393754hg19UCSC Ensembl
Innerchr3:96766457..96876444hg18UCSC Ensembl
Innerchr3:96766457..96876444hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38109988
hg19109988
hg18109988
hg17109988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759161
Supporting Variantsessv21769
SamplesNA12239
Known GenesMTHFD2P1
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)esv2757879
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