A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757817



Internal ID9979894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94752664..94954363hg38UCSC Ensembl
Innerchr2:95418409..95620108hg19UCSC Ensembl
Innerchr2:94782136..94983835hg18UCSC Ensembl
Innerchr2:94840283..95041982hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38201700
hg19201700
hg18201700
hg17201700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759075
Supporting Variantsessv11561
SamplesNA19173
Known GenesANKRD20A8P, FAM95A, LOC442028, TEKT4
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)esv2757817
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