A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22874



Internal ID9621307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14869763..15121196hg38UCSC Ensembl
Innerchr3:14911270..15162703hg19UCSC Ensembl
Innerchr3:14886274..15137707hg18UCSC Ensembl
Innerchr3:14886274..15137707hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38251434
hg19251434
hg18251434
hg17251434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757859
Supporting Variants
SamplesNA12760
Known GenesFGD5, FGD5-AS1, MRPS25, NR2C2, ZFYVE20
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)essv22874
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