A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23855



Internal ID9622397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117557693..118647956hg38UCSC Ensembl
Innerchr4:118478848..119569111hg19UCSC Ensembl
Innerchr4:118698296..119788559hg18UCSC Ensembl
Innerchr4:118836451..119926714hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381090264
hg191090264
hg181090264
hg171090264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757952
Supporting Variants
SamplesNA07022
Known GenesCEP170P1, LOC729218, NDST3, PRSS12, SNHG8, SNORA24
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)essv23855
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